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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...
Autor principal: | Jerath, Nivedita U. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2022
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Materias: | |
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 |
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