Genopathy
Gene-Disorder Association · Article
Gene
POLG2
DNA Polymerase Gamma 2, Accessory Subunit
Disorder
Myopathy With Lactic Acidosis, Hereditary
First reported 1964
Key publication · disorder HEREDITARY METABOLIC MYOPATHY WITH PAROXYSMAL MYOGLOBINURIA DUE TO ABNORMAL GLYCOLYSIS.Journal of neurology, neurosurgery, and psychiatry · 1964
Manually curated
Association Review

In brief

The association between POLG2 (DNA Polymerase Gamma 2, Accessory Subunit) and Myopathy With Lactic Acidosis, Hereditary is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 46
Compounds 0
Trials 0
Publications 0
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

1 source

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
POLG2

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

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04
Myopathy With Lactic Acidosis, Hereditary

The disorder

8 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
Phenotype

Clinical features

32 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

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06
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

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07
Provenance

References & sources

6 references

Every source and publication cited across this dossier, as one numbered reference list.

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