Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis-Reference-Cited by-同舟云学术

Dysferlin aggregation in limb-girdle muscular dystrophy type 2B/myoshi myopathy necessitates mutational screen for diagnosis

Published:2013-03-21 Issue:5 Volume:47 Page:740-747
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Nilsson Mats I.¹,Laureano Marissa L.¹,Saeed Munim¹,Tarnopolsky Mark A.¹

Affiliation:

1. Department of Pediatrics and Medicine; Neuromuscular Clinic; McMaster University Hospital; 1200 Main Street West; Hamilton; Ontario L8N 3Z5; Canada

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Clinical Neurology,Physiology

Reference51 articles.

1. Dysferlinopathies;Urtizberea;Neurol India,2008

3. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy;Liu;Nat Genet,1998

4. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy;Aoki;Neurology,2001

5. Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies;Piccolo;Ann Neurol,2000

Cited by 18 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

1. The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants;BMC Neurology;2022-11-01

2. Immunofluorescence-Based Analysis of Caveolin-3 in the Diagnostic Management of Neuromuscular Diseases;Methods in Molecular Biology;2020

3. Novel duplication mutation of the DYSF gene in a Pakistani family with Miyoshi Myopathy;Saudi Medical Journal;2017-12-03

4. Exome sequences versus sequential gene testing in the UK highly specialised Service for Limb Girdle Muscular Dystrophy;Orphanet Journal of Rare Diseases;2017-09-06

5. Progress and challenges in diagnosis of dysferlinopathy;Muscle & Nerve;2016-10-18