Articles with "gmppb mutations" as a keyword



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Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations

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Published in 2017 at "Neuromuscular Disorders"

DOI: 10.1016/j.nmd.2017.04.006

Abstract: Mutations in GMPPB gene have been reported in patients with early-onset disease ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy (LGMD) with mental retardation. More recently mutations in GMPPB have been identified with… read more here.

Keywords: late onset; limb girdle; muscular dystrophy; girdle muscular ... See more keywords