Details of Disease | DrugMAP

General Information of Disease (ID: DISS9M30)

Disease Name	Muscular dystrophy, limb-girdle, autosomal dominant 4
Synonyms	LGMDD4; muscular dystrophy, limb-girdle, type 1I; muscular dystrophy, limb-girdle, autosomal dominant 4
Disease Hierarchy	DISMMHPT: Muscular dystrophy, limb-girdle, autosomal dominant DISS9M30: Muscular dystrophy, limb-girdle, autosomal dominant 4
Disease Identifiers	MONDO ID MONDO_0029133 UMLS CUI C4748295 OMIM ID 618129 MedGen ID 1648316 SNOMED CT ID 1279886003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
CAPN3	OTCHG3YK	Strong	Autosomal dominant	[1]
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References

1	Mutations in Czech LGMD2A patients revealed by analysis of calpain3 mRNA and their phenotypic outcome. Neuromuscul Disord. 2004 Oct;14(10):659-65. doi: 10.1016/j.nmd.2004.05.005.