Association of type IV spinal muscular atrophy (SMA) with myoclonic epilepsy within a single family

BACKGROUND: Spinal muscular atrophies (SMAs) are a group of disorders characterized by degeneration of the anterior horn cells in the spinal cord and motor nuclei in the lower brainstem. It is transmitted by autosomal recessive inheritance and most of these conditions are linked to SMN gene. Even if...

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Detalles Bibliográficos
Autores principales: Liyanage, Damith S, Pathberiya, Lakmini S, Gooneratne, Inuka K, Vithanage, Kumarangie K, Gamage, Ranjanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4182784/
https://www.ncbi.nlm.nih.gov/pubmed/25278999
http://dx.doi.org/10.1186/1755-7682-7-42

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