Spinal muscular atrophy with lower limbs phenotype: clinical and genetic description of novel mutation in the DYNC1H1 gene

Background. Spinal muscle atrophies (SMA) are a group of diverse heterogenous diseases caused by mutations in several dozens of genes. A rare form of autosomal dominant SMA predominantly affects muscles of the lower extremities.The study objective is to describe clinical and genetic characteristics...

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Main Authors: E. L. Dadali, S. S. Nikitin, F. A. Konovalov, I. A. Akimova, S. A. Korostelev
Format: Artigo
Sprog:Russo
Udgivet: ABV-press 2018-07-01
Serier:Nervno-Myšečnye Bolezni
Fag:
spinal muscular atrophy with lower limbs phenotype
dync1h1 gene
spinal amyotrophy
Online adgang:https://nmb.abvpress.ru/jour/article/view/284
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