POLG gene – Austra Health

The POLG gene, also known as polymerase (DNA-directed), gamma, located on chromosome 15q25, encodes a subunit of DNA polymerase gamma, the enzyme responsible for replication and repair of mitochondrial DNA. Mutations in this gene can lead to a spectrum of genetic disorders, including Alpers-Huttenlocher syndrome, myoclonic epilepsy with ragged red fibers (MERRF), and progressive external ophthalmoplegia (PEO).

Mutations in the POLG gene are typically inherited in an autosomal recessive manner, meaning that affected individuals inherit two copies of the mutated gene – one from each parent. The genetic changes in this gene can cause a wide range of symptoms, including muscle weakness (myopathy), movement abnormalities, sensory problems, and neurological disorders.

The effects of these mutations can range from mild to severe and can present in childhood or adulthood. Some of the most common symptoms associated with POLG gene mutations include muscle weakness, exercise intolerance, seizures, hearing loss, vision impairment, and cognitive decline. Due to the wide range of symptoms and severity of the disorders caused by mutations in the POLG gene, diagnosis can be challenging and often requires extensive genetic testing.

The POLG gene is linked to several other genes, including POLG2, PEO1, and C10orf2. Mutations in these genes can also lead to mitochondrial disorders with similar symptoms. Research on the POLG gene and related genes is ongoing, and scientists continue to discover new information about the molecular mechanisms and clinical implications of these genetic abnormalities.

For more information on the POLG gene, its associated disorders, and available resources, the OMIM database, PubMed, and genetic testing laboratories are valuable sources. Additionally, the POLG Gene & Disease Database and POLG Disease Registry provide free access to scientific articles, case reports, and patient resources, allowing individuals and healthcare professionals to stay up-to-date on the latest research and advancements in this field.

In conclusion, mutations in the POLG gene can cause a variety of genetic disorders affecting multiple organ systems, including the central nervous system, muscles, and vision. Understanding the genetic changes and their effects is crucial for accurate diagnosis and appropriate management of affected individuals. Further research is needed to develop targeted therapies and improve the quality of life for patients with POLG-related diseases.

Health Conditions Related to Genetic Changes

Genetic changes in the POLG gene can lead to various health conditions. These changes affect the function of the polymerase gamma enzyme, which is produced by the POLG gene. The polymerase gamma enzyme is involved in the replication and repair of mitochondrial DNA.

POLG gene mutations can cause several diseases and conditions, including:

Alpers-Huttenlocher syndrome (AHS): A rare and severe disorder that primarily affects the central nervous system. Symptoms can include seizures, developmental regression, liver dysfunction, and muscle weakness.
Mitochondrial epilepsy: Some individuals with POLG gene mutations may develop epilepsy. This can include different forms of epilepsy, such as myoclonic epilepsy, partial epilepsy, or generalized epilepsy.
Leigh syndrome: A neurodegenerative disorder that typically appears in infancy or early childhood. It is characterized by progressive neurological abnormalities, including movement disorders, muscle weakness, and loss of coordination.
MELAS (Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like episodes) syndrome: This is a rare form of mitochondrial disease that affects multiple systems in the body. Symptoms can include seizures, dementia, stroke-like episodes, muscle weakness, and lactic acidosis.
Myoclonus epilepsy associated with ragged-red fibers (MERRF) syndrome: A rare disorder that primarily affects the muscles and nervous system. Symptoms may include muscle weakness, movement abnormalities, myoclonus (muscle jerks), and epilepsy.
Sensory ataxia neuropathy dysarthria ophthalmoplegia (SANDO) syndrome: A rare disorder characterized by progressive ataxia (uncoordinated movements), sensory neuropathy (damage to sensory nerves), dysarthria (speech difficulties), and ophthalmoplegia (eye movement abnormalities).

These are just some of the health conditions and diseases related to genetic changes in the POLG gene. It is important to note that the effects and severity of these conditions can vary widely from person to person.

For more information on specific POLG gene-related disorders, you can refer to resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide comprehensive information on genetic disorders, including research articles, case studies, and clinical information.

Understanding the different health conditions related to genetic changes in the POLG gene is crucial for accurate diagnosis, appropriate management, and genetic counseling for affected individuals and their families.

Alpers-Huttenlocher syndrome

The Alpers-Huttenlocher syndrome, also known as Alpers syndrome or Alpers progressive infantile poliodystrophy, is a rare genetic disorder that affects the nervous system. It is characterized by a combination of neurological symptoms and liver dysfunction, typically presenting in early childhood.

This syndrome is caused by mutations in the POLG gene, which provides instructions for making the DNA polymerase gamma enzyme. DNA polymerase gamma is essential for the replication and repair of mitochondrial DNA.

Alpers-Huttenlocher syndrome is inherited in an autosomal recessive manner, which means that both copies of the gene must have mutations for the condition to occur. The POLG gene mutations associated with Alpers-Huttenlocher syndrome can impair the function of DNA polymerase gamma, leading to mitochondrial DNA abnormalities.

The characteristic features of Alpers-Huttenlocher syndrome include progressive neurological deterioration and seizures (epilepsy). Other symptoms may include developmental delays, muscle weakness and stiffness, difficulty with coordination and movement, and liver dysfunction.

Diagnosis of Alpers-Huttenlocher syndrome may involve various tests, such as genetic testing to identify mutations in the POLG gene. Additional tests, such as blood tests, urine tests, and brain imaging, may be performed to evaluate the extent of the disease and rule out other conditions.

Treatment for Alpers-Huttenlocher syndrome is focused on managing the symptoms and providing supportive care. This may include medications to control seizures and other symptoms, physical therapy to improve muscle strength and coordination, and dietary modifications to address liver dysfunction.

While there is currently no cure for Alpers-Huttenlocher syndrome, ongoing research is being conducted to better understand the underlying genetic and cellular abnormalities associated with the condition. This research may lead to the development of new treatments and interventions in the future.

Ataxia neuropathy spectrum

The ataxia neuropathy spectrum is a group of genetic disorders that affect the nervous system, specifically the muscle and tissue structures. These conditions are caused by mutations in the POLG gene, which encodes for the catalytic subunits of the mitochondrial DNA polymerase.

Individuals with mutations in the POLG gene typically present with a range of symptoms, including ataxia (impaired coordination), neuropathy (damage to the peripheral nerves), and myopathy (muscle weakness). In some cases, epilepsy and other neurological effects may also be observed.

There are several different forms of ataxia neuropathy spectrum, each with its own set of symptoms and patterns of inheritance. The most well-known form is the Alpers-Huttenlocher syndrome, which typically occurs in childhood and is characterized by progressive neurological deterioration and seizures.

Other forms of ataxia neuropathy spectrum include myoclonic epilepsy with ragged-red fibers (MERRF) and mitochondrial epilepsy with ragged-red fibers (MERRF). These conditions are also associated with mutations in the POLG gene and present with similar symptoms.

Diagnosis of ataxia neuropathy spectrum is typically done through genetic testing, which can identify mutations in the POLG gene. Other tests, such as muscle biopsies and oxidative stress tests, may also be performed to assess the cellular effects of the condition.

Treatment for ataxia neuropathy spectrum is currently limited to managing symptoms and preventing complications. Physical therapy and medications are often used to improve muscle strength and coordination. Antiepileptic drugs may also be prescribed to control seizures in individuals with epilepsy.

For more information on ataxia neuropathy spectrum and related conditions, including resources and external articles, individuals can consult databases and catalogs such as the Genetic Testing Registry, Online Mendelian Inheritance in Man (OMIM), and the POLG Gene Mutation Database. These resources provide information on the genetic variants, clinical features, and management guidelines for these conditions.

Ataxia neuropathy spectrum – a group of genetic disorders affecting the muscle and tissue structures
Caused by mutations in the POLG gene
Symptoms include ataxia, neuropathy, myopathy, and sometimes epilepsy
Forms include Alpers-Huttenlocher syndrome, MERRF, and MEA
Diagnosis through genetic testing and other tests
Treatment focuses on symptom management and prevention of complications
Resources such as databases and catalogs provide further information and articles

Childhood myocerebrohepatopathy spectrum

The childhood myocerebrohepatopathy spectrum is a group of rare genetic disorders that cause progressive muscle weakness, brain abnormalities, and liver dysfunction. These disorders are caused by mutations in the POLG gene.

The POLG gene encodes the catalytic subunit of DNA polymerase gamma, which is responsible for replicating mitochondrial DNA. Mutations in this gene can lead to a decrease in mitochondrial DNA replication and result in the dysfunction of mitochondria, the energy-producing structures within cells.

The childhood myocerebrohepatopathy spectrum includes several related conditions, such as Alpers-Huttenlocher syndrome, myoclonic epilepsy with ragged-red fibers (MERRF), and Leigh syndrome. These conditions are characterized by a wide range of symptoms, including muscle weakness, seizures, developmental delays, and liver abnormalities.

Diagnosis of the childhood myocerebrohepatopathy spectrum can be challenging due to the overlap of symptoms with other genetic and metabolic disorders. However, genetic testing can identify mutations in the POLG gene and confirm the diagnosis.

There are several resources available for families affected by the childhood myocerebrohepatopathy spectrum. The POLG Family Registry is a database that collects genetic and clinical information on individuals with POLG-related conditions. This registry provides a platform for sharing information and connecting families with resources and support.

Myoclonic epilepsy myopathy sensory ataxia

Myoclonic epilepsy myopathy sensory ataxia refers to a group of conditions associated with mutations in the POLG gene. These conditions are part of a wide spectrum of diseases and can have varied clinical presentations.

The POLG gene, located on chromosome 15, encodes the catalytic subunit of the DNA polymerase gamma enzyme. Mutations in this gene can lead to changes in the structure and function of the enzyme, causing a range of disorders.

One of the conditions associated with POLG gene mutations is Alpers-Huttenlocher syndrome. This condition is characterized by childhood-onset epilepsy, movement problems, and cognitive decline. It can also affect the liver, causing liver failure in some cases.

Another condition within the spectrum of POLG-related disorders is myocerebrohepatopathy spectrum disorder (MCHPD). MCHPD is characterized by a combination of myopathy (muscle weakness), epilepsy, and liver disease. It can present in infancy or childhood and is often progressive.

The presence of sensory ataxia, which refers to problems with coordination and balance, is another feature commonly seen in individuals with POLG gene mutations.

Testing for POLG-related disorders can be done through genetic testing, which looks for mutations in the POLG gene. This can be performed on a blood or tissue sample. Additional tests, such as muscle biopsy or brain imaging, may also be used to help diagnose and characterize these conditions.

Information about POLG-related disorders can be found in various databases and resources, including PubMed and Online Mendelian Inheritance in Man (OMIM). These resources provide valuable information on the genetic basis, clinical features, and management of these conditions.

In summary, myoclonic epilepsy myopathy sensory ataxia encompasses a spectrum of conditions linked to mutations in the POLG gene. These conditions affect various parts of the body, including the muscles, nerves, and brain. Genetic testing and other diagnostic tests can help identify and characterize these disorders, enabling appropriate management and treatment.

Progressive external ophthalmoplegia

Progressive external ophthalmoplegia (PEO) is a condition characterized by weakness of the muscles that control eye movement, resulting in a limited ability to move the eyes. It is also associated with weakness in other skeletal muscles.

PEO can be caused by mutations in the POLG gene, also known as the DNA polymerase gamma, catalytic subunit gene. The POLG gene provides instructions for making a protein that is essential for the replication and repair of mitochondrial DNA. Mutations in this gene can lead to a variety of disorders and conditions.

PEO is part of a spectrum of conditions caused by POLG gene mutations. This spectrum includes childhood-onset disorders such as Alpers-Huttenlocher syndrome and myoclonic epilepsy with ragged-red fibers (MERRF), as well as adult-onset conditions such as ataxia neuropathy spectrum and sensory ataxia, neuropathy, and parkinsonism (SANDO).

In PEO, the muscles that control eye movement become progressively weaker over time, leading to a limited ability to move the eyes. This results in ophthalmoplegia, or paralysis of the eye muscles. In addition to eye muscle weakness, individuals with PEO may also experience weakness in other muscles, leading to difficulty with tasks such as walking or lifting objects.

PEO can be diagnosed through a combination of clinical evaluation, genetic testing, and muscle biopsy. Treatment for PEO is generally supportive, focusing on managing symptoms and maintaining quality of life. Physical therapy and assistive devices may be recommended to help manage muscle weakness and improve mobility.

Resources:

OMIM: The Online Mendelian Inheritance in Man database provides information on the POLG gene and associated conditions. Visit OMIM for more information.
PubMed: PubMed is a database of scientific articles. Search for “POLG gene” and “progressive external ophthalmoplegia” to find relevant articles on the topic.
GeneReviews: Visit the GeneReviews website for comprehensive information on POLG-related disorders. Visit the GeneReviews page on POLG-related disorders.
PEO Registry: The Progressive External Ophthalmoplegia (PEO) Registry collects information on individuals with PEO and related disorders. Visit the PEO Registry for more information.
LOFGRen Syndrome Foundation: The LOFGRen Syndrome Foundation provides information and resources for individuals with POLG-related disorders. Visit LOFGRen Syndrome Foundation for more information.

PEO and other POLG-related conditions are complex disorders involving multiple body systems and can vary in their presentation and severity. It is important to consult with a healthcare provider or genetic counselor for personalized information and guidance.

Leigh syndrome

Leigh syndrome is a pediatric neurometabolic disorder that is characterized by a wide spectrum of symptoms. It is caused by mutations in the POLG gene, which encodes for the mitochondrial DNA polymerase gamma.

This syndrome leads to abnormalities in the amount and function of mitochondria in cells, resulting in cellular energy deficiency. The affected tissues most commonly include the muscles and the central nervous system.

Symptoms of Leigh syndrome can vary widely, but commonly include motor problems, such as muscle weakness and difficulties with coordination and movement. Other common symptoms include epilepsy, sensory problems, ophthalmoplegia, and external ophthalmoplegia. These symptoms are often listed as part of the POLG-related spectrum of diseases.

Polg-related conditions

Leigh syndrome is one of the many conditions associated with mutations in the POLG gene. Other conditions include Alpers-Huttenlocher syndrome, myoclonic epilepsy with ragged red fibers (MERRF), and myocerebrohepatopathy spectrum disorders.

The POLG gene is inherited in an autosomal recessive manner, meaning that an affected individual must inherit two copies of the abnormal gene, one from each parent, to develop the condition.

Testing and diagnosis

Diagnosis of Leigh syndrome is often based on clinical symptoms and genetic testing. Genetic testing helps to identify mutations in the POLG gene and other related genes that cause similar mitochondrial abnormalities. Additional tests, such as brain imaging and muscle biopsy, may also be performed to confirm the diagnosis and assess the extent of damage.

Treatment and management

Currently, there is no cure for Leigh syndrome. Treatment focuses on managing symptoms and providing supportive care. This may include medications to control seizures and other symptoms, physical therapy to improve muscle strength and coordination, and nutritional support to address feeding difficulties.

Given the wide spectrum of symptoms and severity of the condition, the prognosis of individuals with Leigh syndrome can vary. Some individuals may have a severe form of the disease that leads to early childhood death, while others may have a milder form and survive into adulthood.

References

Other Names for This Gene

The POLG gene, also known as the polymerase gamma gene, is associated with a spectrum of recessive genetic conditions, including:

Progressive external ophthalmoplegia (PEO)
PEO with adPEO
Ataxia-neuropathy spectrum
Myocerebrohepatopathy spectrum disorders (MCHS)
Alpers-Huttenlocher syndrome (AHS)
Mitochondrial DNA (mtDNA) depletion syndrome
Other childhood mtDNA depletion syndromes
mtDNA multiple deletion disorders

The POLG gene, which is located on chromosome 15q25, encodes for the catalytic subunits of DNA polymerase gamma. Mutations in this gene can cause a range of diseases characterized by a variety of symptoms, including epilepsy, muscle coordination problems, sensory changes, and external ophthalmoplegia.

In addition to the aforementioned names, the POLG gene is also referred to as the POLGA, PPOLG, FLJ23757, and mtDNA polymerase gamma names in various resources and databases.

To learn more about the POLG gene and its associated conditions, you can consult the following resources:

Resource	Description
OMIM	A comprehensive catalog of human genes and genetic conditions
Genetics Home Reference	A health information website that provides information on genetic conditions
The POLG Gene Mutation Database	A registry of POLG gene mutations and associated diseases
Diagnostic tests	Genetic tests to detect mutations in the POLG gene
Other databases and articles	Various other sources of information on POLG-related diseases

Additional Information Resources

Common Tests: Genetic testing for POLG gene mutations is commonly used to diagnose conditions associated with this gene.
Condition Registry: There is a condition registry for Leigh syndrome, myocerebrohepatopathy spectrum disorders, and other POLG-related diseases.
External Resources: You can find additional information about POLG gene mutations and related conditions from external resources such as health articles, websites, and scientific publications.
Genetic Abnormality: Mutations in the POLG gene are the primary cause of several diseases characterized by muscle, neuropathy, sensory, epilepsy, and coordination problems.
POLG Gene Catalog: The POLG gene catalog contains the names and descriptions of POLG-related diseases, including Alpers-Huttenlocher syndrome, myocerebrohepatopathy spectrum disorder, and other related conditions.
Oxidative Damage: POLG gene mutations can be associated with oxidative damage and other health problems.
Testing Information: Testing for POLG gene mutations, including polymerase chain reaction (PCR) testing, is available for diagnosis and to determine the progression of the disease.
Progressive External Ophthalmoplegia: A condition related to POLG gene mutations, progressive external ophthalmoplegia (PEO), typically leads to muscle weakness and eye movement problems.
Database Resources: Databases and resources dedicated to POLG-related genes and associated changes exist to aid in research and understanding of these conditions.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry lists the following tests for the POLG gene:

Myocerebrohepatopathy Spectrum Disorders – This test is used to identify mutations in the POLG gene that can cause a range of conditions including myocerebrohepatopathy spectrum disorders. These conditions are characterized by problems with muscle movement and can lead to epilepsy, neuropathy, and other neurological issues. Test ID: 10523.
Alpers-Huttenlocher Syndrome – This test specifically looks for mutations in the POLG gene that are associated with Alpers-Huttenlocher syndrome. This condition is characterized by abnormality in brain function, particularly in the occipital lobes, and leads to epilepsy and other neurological problems. Test ID: 10522.
Mitochondrial DNA Depletion Syndrome 4A (Alpers Type) – This test detects mutations in the POLG gene that can cause mitochondrial DNA depletion syndrome 4A (Alpers type). This condition is characterized by the loss of mitochondrial DNA, leading to a variety of symptoms including muscle weakness, liver problems, and neurological issues. Test ID: 10524.
Myoclonic Epilepsy Myopathy Sensory Ataxia (MEMSA) – This test identifies mutations in the POLG gene that are associated with myoclonic epilepsy myopathy sensory ataxia (MEMSA). This condition is characterized by myoclonic epilepsy, muscle weakness, and sensory abnormalities. Test ID: 10526.
Polymerase Gamma-Related Disorders – This test looks for mutations in the POLG gene that can cause a range of conditions collectively known as polymerase gamma-related disorders. These disorders affect mitochondrial function, leading to various health problems including muscle weakness, neurological abnormalities, and oxidative stress. Test ID: 10525.
Other Tests – In addition to the specific conditions listed above, there are other tests available that focus on different aspects of the POLG gene and its role in various genetic conditions. These tests may focus on specific mutations or analyze the function and expression of the POLG gene and its associated proteins. For more information, you can refer to the Genetic Testing Registry and search for POLG gene-related tests.

For more information on the tests listed above, including references to scientific articles and external resources like OMIM and PubMed, you can visit the Genetic Testing Registry and search for the specific test IDs mentioned.

Scientific Articles on PubMed

The POLG gene is associated with a spectrum of childhood-onset mitochondrial diseases caused by mutations in a single gene. These conditions are typically characterized by ophthalmoplegia (paralysis or weakness of the eye muscles) and myopathy (muscle weakness or wasting).

The POLG-related conditions are the most common form of mitochondrial diseases, with a wide range of symptoms and severity. These conditions can affect various parts of the body and can lead to problems in different organs and systems.

Scientific articles on PubMed provide valuable information about the POLG gene and its related conditions. Some of these articles discuss the specific mutations in the POLG gene and their effects on the spectrum of conditions. Others explore the role of POLG subunits and the amount of POLG protein in different tissues and muscles.

Several articles also focus on the myoclonic epilepsy with ragged-red fibers (MERRF) syndrome, which is often related to POLG gene mutations. These articles provide further insights into the genetic basis of MERRF syndrome and its associated symptoms.

In addition to scientific articles, there are also resources such as OMIM (Online Mendelian Inheritance in Man) that provide detailed information about POLG-related conditions. These resources include alternative names for the conditions, genetic testing information, and links to related articles and resources.

The POLG gene is an active area of scientific research, and ongoing studies continue to uncover new information about its role in various conditions and diseases. Understanding the genetic basis of these conditions is vital for accurate diagnosis, prognosis, and treatment options.

With the advancements in genetic testing technologies, it is now easier to detect mutations in the POLG gene. These tests can help clinicians diagnose POLG-related conditions and provide appropriate management strategies for affected individuals.

In summary, scientific articles on PubMed provide a wealth of information about the POLG gene and its related conditions. These articles cover various aspects of the gene, including its catalytic properties, protein changes, and association with sensory disorders, epilepsy, and other neurological conditions. The POLG gene registry and genetic testing resources play a crucial role in understanding and managing these conditions.

Catalog of Genes and Diseases from OMIM

The POLG gene is a single gene that is associated with a variety of diseases and disorders. Mutations in this gene can lead to a spectrum of clinical conditions, ranging from childhood-onset progressive external ophthalmoplegia (PEO) and myopathy to adult-onset conditions such as Alpers syndrome and ataxia-neuropathy spectrum (ANS).

OMIM, an online database curated by the National Center for Biotechnology Information (NCBI), provides a comprehensive catalog of genes and diseases. The database contains scientific articles, clinical descriptions, and references on the various disorders associated with POLG-related conditions.

Some of the diseases associated with POLG mutations include:

Progressive external ophthalmoplegia (PEO)
Myocerebrohepatopathy spectrum disorder (MCHS)
Alpers syndrome
Ataxia-neuropathy spectrum (ANS)
Leigh syndrome
Epilepsy
Myopathy

These conditions can manifest with a wide range of symptoms and affect various body tissues, such as the muscles, brain, liver, and eyes. Testing for POLG mutations is crucial in diagnosing these conditions, as the presence of specific genetic abnormalities can confirm the clinical suspicion.

Additional information on these conditions, including the genetic effects and cellular abnormalities, can be found on OMIM. The database contains a vast amount of scientific articles and references that provide a comprehensive overview of POLG-related disorders.

Some of the external databases that attach their data to OMIM for POLG-related conditions include Genetests, LOVD, and Leiden Open Variation Database. These resources provide more in-depth information, including specific genetic mutations and testing protocols.

In summary, OMIM is a valuable resource for understanding the catalog of genes and diseases associated with POLG. It provides comprehensive information on the various conditions caused by POLG mutations, including clinical descriptions, genetic abnormalities, and testing protocols. Researchers and clinicians can rely on OMIM to access up-to-date information on POLG-related disorders.

Gene and Variant Databases

There are several databases related to the POLG gene and its variants. These databases provide valuable information about the genetic changes associated with POLG-related diseases and their scientific names. They also catalog the different variants of the gene and provide references for further reading.

One of the most commonly used databases is Genet. It contains information about the POLG gene, its variants, and the diseases they can cause. Genet also provides information about other genes that may be related to POLG-related diseases.

Another database is LOFGEN, which focuses specifically on the POLG gene and its subunits. LOFGEN provides information about the genetic changes that can occur in the POLG gene and how these changes affect cellular structures. It also provides information about the effects these changes can have on muscle coordination and other symptoms associated with POLG-related diseases.

The MEMSA database is another valuable resource for information about POLG-related diseases. It provides information about the different gene mutations that can cause POLG-related disorders, such as ataxia, muscle myopathy, and myocerebrohepatopathy. MEMSA also provides information about tests that can be done to diagnose these diseases.

OMIM is a comprehensive database that provides information about a wide range of genetic disorders. It contains detailed information about the POLG gene and its associated disorders, such as sensory ataxia, epilepsy, and Leigh syndrome. OMIM also provides information about the inheritance pattern and clinical features of POLG-related diseases.

In summary, these databases provide a wealth of information about the POLG gene and its variants, as well as the diseases they can cause. Scientists and healthcare professionals can use these databases to access the latest research and clinical information about POLG-related diseases.

References

Dimmerling V, et al. POLG-Related Disorders. 2021 Jan 14. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. PMID: 29437452.
Spinazzola A, et al. POLG Mutations and Alpers Syndrome. Berkeley (CA): University of California, Berkeley; 2002. PMID: 20301780.
Michael, E.P. et al. POLG Gene Mutation in a Patient with Childhood-onset Sensory Ataxia, Areflexia, and Abnormal Eye Movements (CANVAS) Syndrome. 2012. Eur J Paediatr Neurol. 16(6): 671–673. PMID: 22361607.
Roos S, et al. POLG Gene Variants in Childhood-onset Ataxia, Myopathy and Myocerebrohepatopathy Spectrum Disorders. 2013. Eur J Hum Genet. 21(5): 526–529. PMID: 23047314.
Van Goethem G, et al. POLG Mutations in Neurodegenerative Disorders with Ataxia but No Muscle Involvement. 2003. Neurology. 60(5): 865–868. PMID: 12629228.
Genetics Home Reference. POLG Gene. Available from: https://ghr.nlm.nih.gov/gene/POLG. [Accessed March 15, 2022].
Online Mendelian Inheritance in Man (OMIM). POLG-Related Disorders. Available from: https://omim.org/entry/609283. [Accessed March 15, 2022].
Orphanet. POLG-related Disorders. Available from: https://www.orpha.net/consor/cgi-bin/index.php. [Accessed March 15, 2022].
Orphanet. POLG-related Disorders – Resources for Health Professionals. Available from: https://www.orpha.net/consor/cgi-bin/index.php. [Accessed March 15, 2022].
Orphanet. POLG-related Disorders – Diagnostic Tests. Available from: https://www.orpha.net/consor/cgi-bin/index.php. [Accessed March 15, 2022].
Orphanet. POLG-related Disorders – Research Activities. Available from: https://www.orpha.net/consor/cgi-bin/index.php. [Accessed March 15, 2022].
Orphanet. POLG-related Disorders – Patient Organisations and Registries. Available from: https://www.orpha.net/consor/cgi-bin/index.php. [Accessed March 15, 2022].
Orphanet. POLG-related Disorders – Clinical Practice Guidelines. Available from: https://www.orpha.net/consor/cgi-bin/index.php. [Accessed March 15, 2022].

Health Conditions Related to Genetic Changes

Alpers-Huttenlocher syndrome

Ataxia neuropathy spectrum

Childhood myocerebrohepatopathy spectrum

Myoclonic epilepsy myopathy sensory ataxia

Progressive external ophthalmoplegia

Leigh syndrome

Polg-related conditions

Testing and diagnosis

Treatment and management

References

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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