Spinal muscular atrophy type I associated with a novel SMN1 splicing variant that disrupts the expression of the functional transcript

INTRODUCTION: Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by pathogenic variants in the SMN1 gene. The majority of SMA patients harbor a homozygous deletion of SMN1 exon 7 (95%). Heterozygosity for a conventional variant and a deletion is rare (5%) and not e...

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Autores principales: Votsi, Christina, Koutsou, Pantelitsa, Ververis, Antonis, Georghiou, Anthi, Nicolaou, Paschalis, Tanteles, George, Christodoulou, Kyproula
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10548546/
https://www.ncbi.nlm.nih.gov/pubmed/37799281
http://dx.doi.org/10.3389/fneur.2023.1241195

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