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Article

GNE myopathy caused by a synonymous mutation leading to aberrant mRNA splicing.

Neuromuscular disorders : NMD - 1 Feb 2018

Zhu Wenhua, Eto Masaki, Mitsuhashi Satomi, Takata Kazushiro, Beck Goichi, Sumi-Akamaru Hisae, Mochizuki Hideki, Sakoda Saburo, Takahashi Masanori P, Nishino Ichizo

Abstract excerpt

GNE myopathy is a rare autosomal recessive myopathy caused by bi-allelic mutations in GNE. We report the case of a 36-year-old man who presented with typical clinical and pathological features of GNE myopathy including distal dominant muscle weakness from the age of 29 and numerous rimmed vacuoles on muscle biopsy. Targeted next-generation sequencing revealed a novel synonymous mutation, c.1500A>G (p.G500=),...

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Distal Myopathies
GNE gene
Multienzyme Complexes
Muscle, Skeletal
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29307446
DOI: 10.1016/j.nmd.2017.11.003

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GNE

Variants

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