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GENATLAS PHENOTYPE

last update : 14-03-2018

Symbol	NEM12
Location	15q13.3
Name	nemaline myopathy 12
Corresponding gene	RYR3
Main clinical features	long narrow face, high arched palate and bilateral facial weakness, with proximal weakness in all four limbs, mild scapular winging muscle biopsy revealed wide variation in fibre size with type 1 fibre predominance and atrophy with abundant nemaline bodies located in perinuclear and subsarcolemmal areas, and within the cytoplasm
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

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