Genopathy
Gene-Disorder Association · Article
Gene
MYH7
Myosin Heavy Chain 7
Disorder
Congenital Myopathy 7a, Myosin Storage, Autosomal Dominant
First reported 2003
Supporting publications 19
Key publication · gene–disorder Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.Annals of neurology · 2003
Key publication · disorder Public relations programs of the MSMA and AMA.The Mississippi doctor · 1955
Manually curated
Association Review

In brief

The association between MYH7 (Myosin Heavy Chain 7) and Congenital Myopathy 7a, Myosin Storage, Autosomal Dominant is well established and manually curated, with its 4 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 400
Symptoms 57
Compounds 0
Trials 0
Publications 19
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

4 sources

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

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03
MYH7

The gene

2 source summaries

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

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04
Congenital Myopathy 7a, Myosin Storage, Autosomal Dominant

The disorder

11 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

23 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

400 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

19 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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09
Provenance

References & sources

15 references

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

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