Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

Spinal muscular atrophy linked to chromosome 5q (SMA) is a recessive, progressive, neuromuscular disorder caused by bi-allelic mutations in the SMN1 gene, resulting in motor neuron degeneration and variable presentation in relation to onset and severity. A prevalence of approximately 1–2 per 100,000...

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Detalles Bibliográficos
Autores principales: Verhaart, Ingrid E. C., Robertson, Agata, Wilson, Ian J., Aartsma-Rus, Annemieke, Cameron, Shona, Jones, Cynthia C., Cook, Suzanne F., Lochmüller, Hanns
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5496354/
https://www.ncbi.nlm.nih.gov/pubmed/28676062
http://dx.doi.org/10.1186/s13023-017-0671-8

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