A case of congenital myopathy accompanied by tremor due to a MYBPC1 mutation

Kazuhiro Shiraishi,Rie S Tsuburaya, Shoichi Mukaida,Naoko Yano,Takeshi Yoshida

PEDIATRICS INTERNATIONAL(2022)

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congenital myopathy, MYOTREM, slow skeletal isoform of myosin binding protein C gene (MYBPC1), tremor, whole exome sequencing
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