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

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...

وصف كامل

التفاصيل البيبلوغرافية

المؤلفون الرئيسيون:	Ali Najafi, Behnoosh Tasharrofi, Farshid Zandsalimi, Maryam Rasulinezhad, Masood Ghahvechi Akbari, Gholamreza Zamani, Mahmoud Reza Ashrafi, Morteza Heidari
التنسيق:	Artigo
اللغة:	Inglês
منشور في:	BMC 2023-06-01
سلاسل:	Italian Journal of Pediatrics
الموضوعات:	Acid ceramidase SMA-PME ASAH1 gene Whole exome sequencing
الوصول للمادة أونلاين:	https://doi.org/10.1186/s13052-023-01474-z
الوسوم:	إضافة وسم لا توجد وسوم, كن أول من يضع وسما على هذه التسجيلة!