Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy.
Journal
Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068
Informations de publication
Date de publication:
Oct 2020
Oct 2020
Historique:
received:
08
03
2020
accepted:
28
05
2020
entrez:
18
8
2020
pubmed:
18
8
2020
medline:
18
8
2020
Statut:
epublish
Résumé
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. Whole-exome sequencing of genomic DNA and analysis for recessively inherited mutations; PCR-based messenger RNA/complementary DNA analysis of transcripts to characterize the effects of variants identified by exome sequencing. We identified compound heterozygous mutations in dystonin ( These findings introduce a novel human phenotype, axonal Charcot-Marie-Tooth, of recessive
Identifiants
pubmed: 32802955
doi: 10.1212/NXG.0000000000000496
pii: NG2020013508
pmc: PMC7413632
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e496Informations de copyright
Copyright © 2020 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
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