Homozygous nonsense mutation inSGCAis a common cause of limb-girdle muscular dystrophy in Assiut, Egypt-Reference-Cited by-同舟云学术

Homozygous nonsense mutation inSGCAis a common cause of limb-girdle muscular dystrophy in Assiut, Egypt

Published:2016-08-24 Issue:4 Volume:54 Page:690-695
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Reddy Hemakumar M.¹,Hamed Sherifa A.²,Lek Monkol³⁴,Mitsuhashi Satomi⁵,Estrella Elicia⁵,Jones Michael D.¹,Mahoney Lane J.⁵,Duncan Anna R.⁵,Cho Kyung-ah¹,Macarthur Daniel G.³⁴,Kunkel Louis M.⁵,Kang Peter B.¹⁶

Affiliation:

1. Division of Pediatric Neurology; University of Florida College of Medicine; PO Box 100296 Gainesville Florida USA 32610

2. Department of Neurology and Psychiatry; Assiut University Hospital; Assiut Egypt

3. Analytic and Translational Genetics Unit; Massachusetts General Hospital and Harvard Medical School; Boston Massachusetts USA

4. Broad Institute of the Massachusetts Institute of Technology and Harvard University; Cambridge Massachusetts USA

5. Division of Genetics & Genomics; Boston Children's Hospital and Harvard Medical School; Boston Massachusetts USA

6. Department of Neurology and Department of Molecular Genetics and Microbiology; University of Florida College of Medicine; Gainesville Florida USA

Funder

NIH

Muscular Dystrophy Association

Bernard F. and Alva B. Gimble Foundation

Department of Pediatrics at the University of Florida College of Medicine

National Human Genome Research Institute

Publisher

Wiley

Subject

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

Reference42 articles.

1. Update on the genetics of limb girdle muscular dystrophy;Mitsuhashi;Semin Pediatr Neurol,2012

2. Making sense of the muscular dystrophies: diagnosis and treatment guideline for limb-girdle muscular dystrophy;England;Muscle Nerve,2014

3. Genetic basis of limb-girdle muscular dystrophies: the 2014 update;Nigro;Acta Myol,2014

4. A comprehensive genomic approach for neuromuscular diseases gives a high diagnostic yield;Ankala;Ann Neurol,2015

5. Use of whole-exome sequencing for diagnosis of limb-girdle muscular dystrophy: outcomes and lessons learned;Ghaoui;JAMA Neurol,2015

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