Details of Disease

General Information of Disease (ID: DISIDZC7)

Disease Name Myopathy, congenital, with tremor
Synonyms Myogenic Tremor; MYOPATHY, CONGENITAL, WITH TREMOR; MYOTREM
Disease Hierarchy
DISLSK9G: Congenital myopathy
DISIDZC7: Myopathy, congenital, with tremor
Disease Identifiers
MONDO ID
MONDO_0032797
UMLS CUI
C5231401
OMIM ID
618524
MedGen ID
1684886

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
MYBPC1 OTRPN93S Strong Autosomal dominant [1]
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References

1 Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1. Hum Mol Genet. 2010 Apr 1;19(7):1165-73. doi: 10.1093/hmg/ddp587. Epub 2010 Jan 2.