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Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy
OBJECTIVE: To determine the genetic cause of axonal Charcot-Marie-Tooth disease in a small family with 2 affected siblings, one of whom had cerebellar features on examination. METHODS: Whole-exome sequencing of genomic DNA and analysis for recessively inherited mutations; PCR-based messenger RNA/com...
| Autores principales: | , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Wolters Kluwer
2020
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7413632/ https://www.ncbi.nlm.nih.gov/pubmed/32802955 http://dx.doi.org/10.1212/NXG.0000000000000496 |