Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum

• Main Authors: Ali Najafi (Author), Behnoosh Tasharrofi (Author), Farshid Zandsalimi (Author), Maryam Rasulinezhad (Author), Masood Ghahvechi Akbari (Author), Gholamreza Zamani (Author), Mahmoud Reza Ashrafi (Author), Morteza Heidari (Author)
• Format: Book
• Published: BMC, 2023-06-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Spinal muscular atrophy (SMA) could be classified as 5q and non-5q, based on the chromosomal location of causative genes. A rare form of non-5q SMA is an autosomal-recessive condition called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), phenotypically cha...