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A family with nemaline myopathy type 6 caused by hseterozygous mutation (c.1222C>T) in the KBTBD13 gene in China: A case report

Kang, ZX; Wei, XJ; Miao, J; Gao, YL; Wang, ZY; Yu, XF

Yu, XF (reprint author), First Hosp Jilin Univ, Dept Neurol, Changchun 130021, Jilin, Peoples R China.; Yu, XF (reprint author), First Hosp Jilin Univ, Neurosci Ctr, Changchun 130021, Jilin, Peoples R China.

NEUROPATHOLOGY, 2020; 40 (1): 104

Abstract

Nemaline myopathy (NEM) is a congenital myopathy that typically presents with proximal muscle weakness and hypotonia. To date, 13 genes have been asso......

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