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

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 ...

Source: BMC Medical Genetics - January 14, 2019 Category: Genetics & Stem Cells Authors: Fateme Ziyaee, Eslam Shorafa, Hassan Dastsooz, Parham Habibzadeh, Hamid Nemati, Amir Saeed, Mohammad Silawi, Mohammad Ali Farazi Fard, Mohammad Ali Faghihi and Seyed Alireza Dastgheib Tags: Case report Source Type: research