Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome

Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome

Mutations in the GMPPB gene may underlie both limb girdle muscular dystrophy (LGMD) and congenital myasthenic syndrome (CMS). Forty-one cases have been reported to date and hotspot mutations are emerging in the Caucasian population. Clinical and pathological features of 5 patients with compound hete...

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Bibliographic Details
Main Authors: Luo, S, Cai, S, Maxwell, S, Yue, D, Zhu, W, Qiao, K, Zhu, Z, Zhou, L, Xi, J, Lu, J, Beeson, D, Zhao, C
Format: Journal article
Language:English
Published: Elsevier 2017

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