Ancestral founder mutations in calpain-3 in the Indian Agarwal community: Historical, clinical, and molecular perspective-Reference-Cited by-同舟云学术

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Ancestral founder mutations in calpain-3 in the Indian Agarwal community: Historical, clinical, and molecular perspective

Published:2013-05-11 Issue:6 Volume:47 Page:931-937
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Ankala Arunkanth¹,Kohn Jordan N.¹,Dastur Rashna²,Gaitonde Pradnya²,Khadilkar Satish V.³,Hegde Madhuri R.¹

Affiliation:

1. Department of Human Genetics; Emory University School of Medicine; 615 Michael Street Atlanta Georgia 30322 USA

2. Institute for Advanced Training and Research in Interdisciplinary Sciences; Mumbai India

3. Department of Neurology; Grant Medical College and Sir J.J. Group of Hospitals; Mumbai India

Publisher

Wiley

Subject

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

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.23763/fullpdf

Reference30 articles.

1. The muscular dystrophies;Emery;Lancet,2002

2. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed italian limb girdle muscular dystrophy patients;Guglieri;Hum Mutat,2008

3. Pathology and diagnosis of muscular dystrophies;Navarro;Adv Exp Med Biol,2009

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

5. Molecular etiopathogenesis of limb girdle muscular and congenital muscular dystrophies: boundaries and contiguities;Guglieri;Clin Chim Acta,2005

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3. Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1;Orphanet Journal of Rare Diseases;2024-04-01

4. Clinical and Genetic Characteristics of Limb-Girdle Muscular Dystrophy in Iranian Patients;Iranian Journal of Pediatrics;2023-11-12

5. Large Region of Homozygous (ROH) Identified in Indian Patients with Autosomal Recessive Limb-Girdle Muscular Dystrophy with p.Thr182Pro Variant in SGCB Gene;Human Mutation;2023-03-28

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