Article
MYH7 mutation associated with two phenotypes of myopathy.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Feb 2018
Li Nan, Zhao Zhe, Shen Hongrui, Bing Qi, Guo Xuan, Hu Jing
Abstract excerpt
The mutations of MYH7 (slow skeletal/β-cardiac myosin heavy chain) are commonly found in familial hypertrophic/dilated cardiomyopathy, and also can cause Laing early-onset distal myopathy (LDM), myosin storage myopathy (MSM), and congenital myopathy with fiber-type disproportion (CFTD). Here we report two cases whose diagnosis was hereditary myopathy according to clinical feature and muscle pathology analysis....
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