A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality-Reference-Cited by-同舟云学术

A recurrent de novo DYNC1H1 tail domain mutation causes spinal muscular atrophy with lower extremity predominance, learning difficulties and mild brain abnormality

Published:2018-09 Issue:9 Volume:28 Page:750-756
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Chan Sophelia Hoi Shan,van Alfen Nens,Thuestad Inger Johanne,Ip Janice,Chan Angel On-Kei,Mak Christopher,Chung Brian Hon-Yin,Verrips Aad^ORCID,Kamsteeg Erik-Jan

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference14 articles.

1. Mutations in the tail domain of DYNC1H1 cause dominant spinal muscular atrophy;Harms;Neurology,2012

2. Novel dynein DYNC1H1 neck and motor domain mutations link distal spinal muscular atrophy and abnormal cortical development;Fiorillo;Hum Mutat,2014

3. Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy;Scoto;Neurology,2015

4. Expanding the phenotypic spectrum associated with mutations of DYNC1H1;Beecroft;Neuromuscul Disord,2017

5. Mutation screen reveals novel variants and expands the phenotypes associated with DYNC1H1;Strickland;J Neurol,2015

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