Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5-Reference-Cited by-同舟云学术

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Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5

Published:2012-03-07 Issue:12 Volume:78 Page:897-903
ISSN:0028-3878
Container-title:Neurology
language:en
Short-container-title:Neurology

Author:

Penttila S.,Palmio J.,Suominen T.,Raheem O.,Evila A.,Muelas Gomez N.,Tasca G.,Waddell L. B.,Clarke N. F.,Barboi A.,Hackman P.,Udd B.

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Neurology (clinical)

Cited by 101 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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2. Ano5 Mutation Leads to Bone Dysfunction of Gnathodiaphyseal Dysplasia via Disturbing Akt Signaling;2024-09-10

3. Clinical description of a homozygous Lys 1169* variant in the DYSF gene associated with autosomal recessive Miyoshi muscular dystrophy type 1: A familial case report;Heliyon;2024-08

4. Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases;Scientific Reports;2024-02-15

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