Details of Disease | DrugMAP

General Information of Disease (ID: DISS717V)

Disease Name	Myopathy caused by variation in POMT1
Synonyms	myopathy caused by mutation in POMT1; POMT1 myopathy; POMT1-related myopathy
Definition	Any myopathy in which the cause of the disease is a variation in the POMT1 gene.
Disease Hierarchy	DIS9PC7U: Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan DISU0K94: Hereditary skeletal muscle disorder DISOWG27: Myopathy DISS717V: Myopathy caused by variation in POMT1

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
POMT1	OTGQSHL5	Definitive	Autosomal recessive	[1]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.