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

• প্রধান লেখক: Fateme Ziyaee (লেখক), Eslam Shorafa (লেখক), Hassan Dastsooz (লেখক), Parham Habibzadeh (লেখক), Hamid Nemati (লেখক), Amir Saeed (লেখক), Mohammad Silawi (লেখক), Mohammad Ali Farazi Fard (লেখক), Mohammad Ali Faghihi (লেখক), Seyed Alireza Dastgheib (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2019-01-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

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...