Details of Disease

General Information of Disease (ID: DISQ210T)

Disease Name Myopathy, congenital, with structured cores and z-line abnormalities
Synonyms MYOCOZ; Multiple Structured Core Disease; MYOPATHY, CONGENITAL, WITH STRUCTURED CORES AND Z-LINE ABNORMALITIES; myopathy, congenital with structured cores and z-line abnormalities
Disease Hierarchy
DISLSK9G: Congenital myopathy
DISQ210T: Myopathy, congenital, with structured cores and z-line abnormalities
Disease Identifiers
MONDO ID
MONDO_0032852
UMLS CUI
C5231445
OMIM ID
618654
MedGen ID
1684705

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
ACTN2 OT9FOLD7 Strong Autosomal dominant [1]
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References

1 ACTN2 mutations cause "Multiple structured Core Disease" (MsCD). Acta Neuropathol. 2019 Mar;137(3):501-519. doi: 10.1007/s00401-019-01963-8. Epub 2019 Jan 30.