Details of Disease | DrugMAP

General Information of Disease (ID: DISFPK6Q)

Disease Name	Early-onset myopathy with fatal cardiomyopathy
Synonyms	EOMFC; SALMY; myopathy, early-onset, with fatal cardiomyopathy; Salih myopathy
Disease Hierarchy	DISN5GSL: Autosomal recessive titinopathy DISBHDU9: Familial dilated cardiomyopathy DISLG2RO: Hereditary neuromuscular disease DISFPK6Q: Early-onset myopathy with fatal cardiomyopathy
Disease Identifiers	MONDO ID MONDO_0012714 MESH ID C567129 UMLS CUI C2673677 OMIM ID 611705 MedGen ID 435983 Orphanet ID 289377 SNOMED CT ID 702343002

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
TTN	OT0LZ058	Definitive	Autosomal recessive	[1]
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References

1	Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T?>?G Splice Variant. Neuropediatrics. 2022 Oct;53(5):309-320. doi: 10.1055/a-1859-0800. Epub 2022 May 23.