A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report-Reference-Cited by-同舟云学术

A novel mutation in SEPN1 causing rigid spine muscular dystrophy 1: a Case report

Published:2019-01-14 Issue:1 Volume:20 Page:
ISSN:1471-2350
Container-title:BMC Medical Genetics
language:en
Short-container-title:BMC Med Genet

Author:

Ziyaee Fateme,Shorafa Eslam,Dastsooz Hassan,Habibzadeh Parham^ORCID,Nemati Hamid,Saeed Amir,Silawi Mohammad,Farazi Fard Mohammad Ali,Faghihi Mohammad Ali,Dastgheib Seyed Alireza^ORCID

Funder

NIMAD

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1186/s12881-018-0743-1.pdf

Reference38 articles.

1. Emery AE. The muscular dystrophies. Lancet. 2002;359(9307):687–95.

2. Lisi MT, Cohn RD. Congenital muscular dystrophies: new aspects of an expanding group of disorders. Biochim Biophys Acta. 2007;1772(2):159–72.

3. Muntoni F, Torelli S, Brockington M. Muscular dystrophies due to glycosylation defects. Neurotherapeutics. 2008;5(4):627–32.

4. Darin N, Tulinius M. Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden. Neuromuscul Disord. 2000;10(1):1–9.

5. Norwood FL, Harling C, Chinnery PF, Eagle M, Bushby K, Straub V. Prevalence of genetic muscle disease in northern England: in-depth analysis of a muscle clinic population. Brain. 2009;132(Pt 11):3175–86.

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