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Article

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

Italian journal of pediatrics - 6 Jun 2023

Najafi Ali, Tasharrofi Behnoosh, Zandsalimi Farshid, Rasulinezhad Maryam, Ghahvechi Akbari Masood, Zamani Gholamreza, Ashrafi Mahmoud Reza, Heidari Morteza

Abstract excerpt

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 characterized by myoclonic and generalized seizures with progressive neurological deterioration. SMA-PME is a clinically...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37280710
DOI: 10.1186/s13052-023-01474-z
PMCID: PMC10246360

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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