Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1-Reference-Cited by-同舟云学术

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Diagnostic approach for FSHD revisited: SMCHD1 mutations cause FSHD2 and act as modifiers of disease severity in FSHD1

Published:2014-11-05 Issue:6 Volume:23 Page:808-816
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Larsen Mirjam,Rost Simone,El Hajj Nady,Ferbert Andreas,Deschauer Marcus,Walter Maggie C,Schoser Benedikt,Tacik Pawel,Kress Wolfram,Müller Clemens R

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014191.pdf

Reference48 articles.

1. Emery AE : Population frequencies of inherited neuromuscular diseases—a world survey. Neuromuscul Disord 1991; 1: 19–29.

2. Mostacciuolo ML, Pastorello E, Vazza G et al: Facioscapulohumeral muscular dystrophy: epidemiological and molecular study in a north-east Italian population sample. Clin Genet 2009; 75: 550–555.

3. Padberg GW, Lunt PW, Koch M, Fardeau M : Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscul Disorde 1991; 1: 231–234.

4. Pandya S, King WM, Tawil R : Facioscapulohumeral dystrophy. Phys Ther 2008; 88: 105–113.

5. Statland JM, Tawil R : Facioscapulohumeral muscular dystrophy: molecular pathological advances and future directions. Curr Opin Neurol 2011; 24: 423–428.

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