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...

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Autori principali:	Ali Najafi, Behnoosh Tasharrofi, Farshid Zandsalimi, Maryam Rasulinezhad, Masood Ghahvechi Akbari, Gholamreza Zamani, Mahmoud Reza Ashrafi, Morteza Heidari
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	BMC 2023-06-01
Serie:	Italian Journal of Pediatrics
Soggetti:	Acid ceramidase SMA-PME ASAH1 gene Whole exome sequencing
Accesso online:	https://doi.org/10.1186/s13052-023-01474-z
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