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

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

Abstract Background Muscular dystrophies are a clinically and genetically heterogeneous group of disorders characterized by variable degrees of progressive muscle degeneration and weakness. There is a wide variability in the age of onset, symptoms and rate of progression in subtypes of these disorde...

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Bibliographic Details
Main Authors: Fateme Ziyaee, Eslam Shorafa, Hassan Dastsooz, Parham Habibzadeh, Hamid Nemati, Amir Saeed, Mohammad Silawi, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi, Seyed Alireza Dastgheib
Format: Article
Language:English
Published: BMC 2019-01-01
Series:BMC Medical Genetics
Subjects:
Novel mutation
SEPN1
Rigid spine muscular dystrophy
Muscular dystrophies
Selenoproteins
Online Access:http://link.springer.com/article/10.1186/s12881-018-0743-1

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

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