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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...
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| Udgivet i: | Neurol Genet |
|---|---|
| Main Authors: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Wolters Kluwer
2020
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7413632/ https://ncbi.nlm.nih.gov/pubmed/32802955 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000496 |
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