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GENATLAS PHENOTYPE

last update : 14-09-2013

Symbol	NEM8
Location	3p22.1
Name	nemaline myopathy 8
Corresponding gene	KLHL40
Main clinical features	severe muscle disorder characterized by fetal akinesia or hypokinesia, followed by contractures, fractures, respiratory failure, and swallowing difficulties apparent at birth skeletal muscle biopsy shows numerous small nemaline bodies, often with no normal myofibrils
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
missense		abnormal protein/loss of function

Remark(s)

. missense mutations occurred mostly in conserved functional domains within KLHL40, and they were predicted to destabilize the intramolecular interactions and thus impair protein stability (PMID: 23746549))