Novel compound heterozygous GFPT1 mutations in a family with limb-girdle myasthenia with tubular aggregates


Congenital myasthenic syndrome (CMS) is a clinically and genetically heterogeneous group of inherited disorders characterized by defects in neuromuscular transmission resulting from mutations in numbers of genes [1–3]. CMS is clinically similar to the autoimmune disorder myasthenia gravis, leading to transient muscle weakness and fatigue [4,5]. Herein, we described the clinical features of two siblings in a Chinese family, who presented with transient weakness of the limb-girdle and fatigue, but the result of anti-acetylcholine receptor antibodies assay was negative and the facial or extraocular muscles were not involved.


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