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GENATLAS PHENOTYPE

last update : 04-03-2015

Symbol	MPRM
Location	2q31.2
Name	myopathy, proximal, with early respiratory muscle involvement
Other name(s)	Edström myopathy hereditary myopathy with early respiratory failure
Corresponding gene	TTN
Other symbol(s)	ADPM1, HMERF
Main clinical features	characterized by adult onset, proximal weakness and early respiratory muscle involvement and characteristic cytoplasmic bodies in affected muscle
Genetic determination	autosomal dominant
Function/system disorder	neuromuscular
Type	disease

Remark(s)