Mild Late-Onset Sensory Neuropathy Associated with Heterozygous Missense GDAP1 Variants

This study presents the clinical and electrophysiological findings of four subjects with a pathogenic heterozygous GDAP1 variant causing Charcot–Marie–Tooth disease 2K (CMT2K) and one additional subject with an uncertain GDAP1 variant and clinical findings of CMT 2K. The study evaluated these five s...

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Detalles Bibliográficos
Autor principal: Jerath, Nivedita U.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2022
Materias:
Case Series
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9155904/
https://www.ncbi.nlm.nih.gov/pubmed/35656516
http://dx.doi.org/10.1155/2022/7492077

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9155904/
https://www.ncbi.nlm.nih.gov/pubmed/35656516
http://dx.doi.org/10.1155/2022/7492077

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