Divergent Features of Mitochondrial Deficiencies in LGMD2A Associated With Novel Calpain-3 Mutations-Reference-Cited by-同舟云学术

Divergent Features of Mitochondrial Deficiencies in LGMD2A Associated With Novel Calpain-3 Mutations

Published:2018-11-15 Issue:1 Volume:78 Page:88-98
ISSN:0022-3069
Container-title:Journal of Neuropathology & Experimental Neurology
language:en
Short-container-title:

Author:

El-Khoury Riyad¹,Traboulsi Sahar¹,Hamad Tarek¹,Lamaa Maher²,Sawaya Raja³,Ahdab-Barmada Mamdouha¹

Affiliation:

1. Neuromuscular Diagnostic Laboratory, Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Beirut, Lebanon

2. Department of Pediatrics, Al Bahman Hospital, Beirut, Lebanon

3. Department of Neurology, American University of Beirut Medical Center, Beirut, Lebanon

Funder

Lebanese Centre National de Recherche Scientifique

Publisher

Oxford University Press (OUP)

Subject

Cellular and Molecular Neuroscience,Clinical Neurology,Neurology,General Medicine,Pathology and Forensic Medicine

Link

http://academic.oup.com/jnen/article-pdf/78/1/88/27089070/nly113.pdf

Reference39 articles.

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2. The muscular dystrophies;Bushby;Baillieres Clin Neurol,1994

3. Calpain 3 gene mutations: Genetic and clinico-pathologic findings in limb-girdle muscular dystrophy;Chae;Neuromuscul Disord,2001

4. Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?;Straub;Neuromuscul Disord,2016

5. The calpain system;Goll;Physiol Rev,2003

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