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Article

Exome sequencing reveals mutations in MFN2 and GDAP1 in severe Charcot-Marie-Tooth disease.

Journal of the peripheral nervous system : JPNS - 1 Sept 2014

Kostera-Pruszczyk Anna, Kosinska Joanna, Pollak Agnieszka, Stawinski Piotr, Walczak Anna, Wasilewska Krystyna, Potulska-Chromik Anna, Szczudlik Piotr, Kaminska Anna, Ploski Rafal

Abstract excerpt

The aim of our study was to characterize electrophysiologically and explain the genetic cause of severe Charcot-Marie-Tooth (CMT) in a 3.5-year-old with asymptomatic parents and a maternal grandfather with a history of mild adult-onset axonal neuropathy. Severity of neuropathy was assessed by Charcot-Marie-Tooth neuropathy score (CMTNS). Whole-exome sequencing was performed using an Illumina TruSeq Exome...

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Source

Identifiers

PMID: 25403865
DOI: 10.1111/jns.12088

Genes

GDAP1
MFN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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