Details of Disease | DrugMAP

General Information of Disease (ID: DIS4WFUM)

Disease Name	Nemaline myopathy 9
Synonyms	nemaline myopathy caused by mutation in KLHL41; KLHL41 nemaline myopathy; nemaline myopathy type 9; NEM9; nemaline myopathy 9
Definition	Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene.
Disease Hierarchy	DISY1645: Typical nemaline myopathy DIS5IYLY: Nemaline myopathy DIST7MSL: Childhood-onset nemaline myopathy DISJR7WP: Severe congenital nemaline myopathy DISMJ4LI: Intermediate nemaline myopathy DIS4WFUM: Nemaline myopathy 9
Disease Identifiers	MONDO ID MONDO_0014326 UMLS CUI C3810384 OMIM ID 615731 MedGen ID 816714

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
KLHL41	OTLABE56	Strong	Autosomal recessive	[1]
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References

1	Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy. Am J Hum Genet. 2013 Dec 5;93(6):1108-17. doi: 10.1016/j.ajhg.2013.10.020. Epub 2013 Nov 21.