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

• Egile Nagusiak: Fateme Ziyaee (Egilea), Eslam Shorafa (Egilea), Hassan Dastsooz (Egilea), Parham Habibzadeh (Egilea), Hamid Nemati (Egilea), Amir Saeed (Egilea), Mohammad Silawi (Egilea), Mohammad Ali Farazi Fard (Egilea), Mohammad Ali Faghihi (Egilea), Seyed Alireza Dastgheib (Egilea)
• Formatua: Liburua
• Argitaratua: BMC, 2019-01-01T00:00:00Z.
• Gaiak: article
• Sarrera elektronikoa: 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...