Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type-Reference-Cited by-同舟云学术

Intrafamilial variability of limb-girdle muscular dystrophy, LGMD1D type

Published:2020-02 Issue:2 Volume:63 Page:103655
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Zima Judith,Eaton Alison^ORCID,Pál Endre,Till Ágnes,Ito Yoko A.,Warman-Chardon Jodi,Hartley Taila,Cagnone Gael^ORCID,Melegh Bela I.,Boycott Kym M.,Melegh Béla,Hadzsiev Kinga

Funder

Genome Canada

Ontario Genomics Institute

Canadian Institutes of Health Research

Ontario Research Fund

Genome Alberta

Genome British Columbia

Genome Quebec

Children's Hospital of Eastern Ontario Foundation

Hungarian Science Foundation

NKFIH

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference22 articles.

1. FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project;Beaulieu;Am. J. Hum. Genet.,2014

2. Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy. Neuromuscular Disorders: NMD;Couthouis,2014

3. Are all the previously reported genetic variants in limb girdle muscular dystrophy genes pathogenic?;Di Fruscio;Eur. J. Hum. Genet.: EJHG (Eur. J. Hum. Genet.),2016

4. Four new Finnish families with LGMD1D; refinement of the clinical phenotype and the linked 7q36 locus;Hackman;Neuromuscul. Disord.: NMD,2011

5. Exome sequencing reveals DNAJB6 mutations in dominantly-inherited myopathy;Harms;Ann. Neurol.,2012

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