Genopathy
Gene-Disorder Association · Article
Gene
GAA
Alpha Glucosidase
Disorder
Limb-Girdle Muscular Dystrophy
First reported 1993
Key publication · gene–disorder Respiratory involvement in primary muscle disorders: assessment and management.The Quarterly journal of medicine · 1993
Key publication · disorder Muscular dystrophy in Northern Ireland. III. Linkage data with particular reference to autosomal limb girdle muscular dystrophy.Annals of human genetics · 1955
Manually curated
Association Review

In brief

The association between GAA (Alpha Glucosidase) and Limb-Girdle Muscular Dystrophy is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 0
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.

Request access
02
Provenance

Evidence and sources

1 source

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

Request access
03
GAA

The gene

2 source summaries

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

Request access
04
Limb-Girdle Muscular Dystrophy

The disorder

8 database identifiers

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

Request access
05
Provenance

References & sources

4 references

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

Request access