Details of Disease | DrugMAP

General Information of Disease (ID: DISU53TI)

Disease Name	Congenital myopathy 4A, autosomal dominant
Synonyms	fiber-type disproportion myopathy, congenital; CAPM1; myopathy, congenital, with fiber-type disproportion; CFTDM; NEM1; CFTD; cap myopathy 1; nemaline myopathy 1
Disease Hierarchy	DISLSK9G: Congenital myopathy DISU53TI: Congenital myopathy 4A, autosomal dominant

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SELENON	OTSGKO5M	Strong	Autosomal recessive	[1]
TPM3	OT5RU5G6	Strong	Autosomal dominant	[2]
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References

1	Satellite cell loss and impaired muscle regeneration in selenoprotein N deficiency. Hum Mol Genet. 2011 Feb 15;20(4):694-704. doi: 10.1093/hmg/ddq515. Epub 2010 Dec 2.
2	Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol. 2008 Mar;63(3):329-37. doi: 10.1002/ana.21308.