Details of Disease | DrugMAP

General Information of Disease (ID: DISNMUMC)

Disease Name	Muscular dystrophy, limb-girdle, autosomal recessive 28
Disease Hierarchy	DISWPGLM: Autosomal recessive limb-girdle muscular dystrophy DISNMUMC: Muscular dystrophy, limb-girdle, autosomal recessive 28
Disease Identifiers	MONDO ID MONDO_0957270 UMLS CUI C5830518 OMIM ID 620375 MedGen ID 1841154

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DME Molecule(s)

Gene Name	DME ID	Evidence Level	Mode of Inheritance	REF
HMGCR	DEFK2EH	Strong	Autosomal recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HMGCR	OTRT3F3U	Strong	Autosomal recessive	[1]
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References

1	Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone. Proc Natl Acad Sci U S A. 2023 Feb 14;120(7):e2217831120. doi: 10.1073/pnas.2217831120. Epub 2023 Feb 6.