Genopathy
Gene-Disorder Association · Article
Gene
SPEG
Striated Muscle Enriched Protein Kinase
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 SPEG (Striated Muscle Enriched Protein Kinase) 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
SPEG

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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