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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...

Topics

Adolescent
Age Factors
Age of Onset
Amino Acid Substitution
Axons
Charcot-Marie-Tooth Disease
Child
Child, Preschool
DNA Mutational Analysis
Disease Progression

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Extremities

Female

Genes, Recessive

Genetic Markers

Genetic Testing

Genotype

Humans

Infant

Source

Identifiers

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

Genes

GDAP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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