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Article

Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.

Neuromuscular disorders : NMD - 1 Jul 2009

Moroni Isabella, Morbin Michela, Milani Micaela, Ciano Claudia, Bugiani Marianna, Pagliano Emanuela, Cavallaro Tiziana, Pareyson Davide, Taroni Franco

Abstract excerpt

We report a detailed study of eight patients from four Italian families presenting with autosomal recessive axonal Charcot-Marie-Tooth disease (AR-CMT2), characterized by early-onset and progressive severe weakness of all limbs. Vocal cord paresis was present in two cases. Sural nerve biopsy performed in three patients showed a severe neuropathy characterized by a predominant axonal involvement. Five novel...

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Identifiers

PMID: 19500985
DOI: 10.1016/j.nmd.2009.04.014

Genes

GDAP1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.PMID 19500985Read ↗

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