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

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 characteriz...

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Detalles Bibliográficos
Autores principales: Najafi, Ali, Tasharrofi, Behnoosh, Zandsalimi, Farshid, Rasulinezhad, Maryam, Ghahvechi Akbari, Masood, Zamani, Gholamreza, Ashrafi, Mahmoud Reza, Heidari, Morteza
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10246360/
https://www.ncbi.nlm.nih.gov/pubmed/37280710
http://dx.doi.org/10.1186/s13052-023-01474-z

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