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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2014
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Materias: | |
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 |