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GENATLAS PHENOTYPE

last update : 03-03-2017

Symbol	NEM11
Location	10q21.3
Name	nemaline myopathy 11
Corresponding gene	MYPN
Main clinical features	congenital myopathy characterized by onset of slowly progressive muscle weakness in the first decade, with gait difficulties due to proximal muscle weakness and atrophy mainly affecting the lower limbs and neck muscle biopsy shows nemaline bodies; some patients may have mild cardiac or respiratory involvement
Genetic determination	autosomal recessive
Function/system disorder	neuromuscular
Type	disease

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