Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience

Author:

Seong M.-W.1,Cho A.2,Park H.W.1,Seo S.H.1,Lim B.C.3,Seol D.1,Cho S.I.1,Park S.S.1,Chae J.H.3

Affiliation:

1. Departments of Laboratory Medicine, Seoul National University Hospital; Seoul National University College of Medicine; Seoul Korea

2. Department of Pediatrics, College of Medicine; Ewha Womans University; Seoul Korea

3. Department of Pediatrics, Seoul National University Children's Hospital; Seoul National University College of Medicine; Seoul Korea

Funder

Basic Science Research Program through the National Research Foundation of Korea

Ministry of Education, Science, and Technology

Korean Health Technology R&D project, Ministry of Health and Welfare, Republic of Korea

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Reference12 articles.

1. Limb-girdle muscular dystrophy;Mathews;Curr Neurol Neurosci Rep,2003

2. Limb-girdle muscular dystrophy: one gene with different phenotypes, one phenotype with different genes;Zatz;Curr Opin Neurol,2000

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

4. Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan;Minami;J Neurol Sci,1999

5. Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients;Tagawa;J Neurol Sci,2003

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