Bethlem myopathy: a series of 16 patients and description of seven new associated mutations-Reference-Cited by-同舟云学术

Bethlem myopathy: a series of 16 patients and description of seven new associated mutations

Published:2019-01-31 Issue:4 Volume:266 Page:934-941
ISSN:0340-5354
Container-title:Journal of Neurology
language:en
Short-container-title:J Neurol

Author:

Panadés-de Oliveira Luísa^ORCID,Rodríguez-López Claudia,Cantero Montenegro Diana,Marcos Toledano María del Mar,Fernández-Marmiesse Ana,Esteban Pérez Jesús,Hernández Lain Aurelio,Domínguez-González Cristina

Publisher

Springer Science and Business Media LLC

Subject

Neurology (clinical),Neurology

Link

http://link.springer.com/article/10.1007/s00415-019-09217-z/fulltext.html

Reference21 articles.

1. Briñas L, Richard P, Quijano-Roy S, Gartioux C, Ledeuil C, Lacène E et al (2010) Early onset collagen VI myopathies: genetic and clinical correlations. Ann Neurol 68(4):511–520

2. Merlini L, Martoni E, Grumati P, Sabatelli P, Squarzoni S, Urciuolo A et al (2008) Autosomal recessive myosclerosis myopathy is a collagen VI disorder. Neurology 71(16):1245–1253

3. Scacheri PC, Gillanders EM, Subramony SH, Vedanarayanan V, Crowe CA, Thakore N et al (2002) Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype. Neurology 58(4):593–602

4. Okada M, Kawahara G, Noguchi S, Sugie K, Murayama K, Nonaka I et al (2007) Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. Neurology 69(10):1035–1042

5. Kim SY, Kim WJ, Kim H, Choi SA, Lee JS, Cho A et al (2018) Collagen VI-related myopathy: expanding the clinical and genetic spectrum. Muscle Nerve 58(3):381–388

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4. A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report;Frontiers in Neurology;2023-01-27

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