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Article

Novel compound heterozygous variants in the GFPT1 gene leading to rare limb-girdle congenital myasthenic syndrome with rimmed vacuoles.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Aug 2021

Ma Yanyan, Xiong Ting, Lei Guohua, Ding Jiaqi, Yang Rui, Li Zunbo, Guo Jun, Shen Dingguo

Abstract excerpt

BACKGROUND: Congenital myasthenic syndrome (CMS) is a heterogeneous group of rare disorders with impaired neuromuscular transmission caused by genetic defects, which is characterized by fatigable muscle weakness. CASE PRESENTATION: Herein, we report a case of limb-girdle CMS (LG-CMS) in a 15-year-old Chinese girl with limb weakness and mild ptosis. The patient presented with well-defined clinical manifestations,...

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PMID: 33438142
DOI: 10.1007/s10072-020-05021-0

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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