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Article

[A novel mutation in glycyl-tRNA synthetase caused Charcot-Marie-Tooth disease type 2D with facial and respiratory muscle involvement].

Rinsho shinkeigaku = Clinical neurology - 1 Jan 2014

Kawakami Nobuko, Komatsu Kenichi, Yamashita Hirofumi, Uemura Kengo, Oka Nobuyuki, Takashima Hiroshi, Takahashi Ryosuke

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a hereditary peripheral neuropathy; symptoms include distal wasting and weakness, usually with some sensory impairment. The clinical course is typically benign and the disease is not life threatening; however, in some cases, severe phenotypes include serious respiratory distress. CASE REPORT: Here we describe a 45-year-old woman with a long course of motor-dominant...

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PMID: 25420567
DOI: 10.5692/clinicalneurol.54.911

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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