Загрузка...

Variants in the genes DCTN2,DNAH10,LRIG3, and MYO1A are associated with intermediate Charcot–Marie–Tooth disease in a Norwegian family

INTRODUCTION: Charcot–Marie–Tooth disease (CMT) is a heterogeneous inherited neuropathy. The number of known CMT genes is rapidly increasing mainly due to next‐generation sequencing technology, at present more than 70 CMT‐associated genes are known. We investigated whether variants in the DCTN2 coul...

Полное описание

Сохранить в:
Библиографические подробности
Опубликовано в: :Acta Neurol Scand
Главные авторы: Braathen, G. J., Høyer, H., Busk, Ø. L., Tveten, K., Skjelbred, C. F., Russell, M. B.
Формат: Artigo
Язык:Inglês
Опубликовано: John Wiley and Sons Inc. 2015
Предметы:
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC5057358/
https://ncbi.nlm.nih.gov/pubmed/26517670
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/ane.12515
Метки: Добавить метку
Нет меток, Требуется 1-ая метка записи!