Details of Disease

General Information of Disease (ID: DISPSNW4)

Disease Name Congenital myopathy with reduced type 2 muscle fibers
Synonyms myopathy, congenital, with fast-twitch (type II) fiber atrophy; myopathy, congenital, with fast-twitch (type II) fibre atrophy
Disease Hierarchy
DISCPWH9: Autosomal recessive disease
DISLSK9G: Congenital myopathy
DISPSNW4: Congenital myopathy with reduced type 2 muscle fibers
Disease Identifiers
MONDO ID
MONDO_0034109
UMLS CUI
C5193081
OMIM ID
618414
MedGen ID
1672638
Orphanet ID
544602
SNOMED CT ID
1255274002

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
MYL1 OTDUYR4U Supportive Autosomal recessive [1]
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References

1 Bi-allelic mutations in MYL1 cause a severe congenital myopathy. Hum Mol Genet. 2018 Dec 15;27(24):4263-4272. doi: 10.1093/hmg/ddy320.