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Spinal Muscular Atrophy: Present State

Spinal muscular atrophy (SMA) is a hereditary neurodegenerative disease caused by homozygous deletions or mutations in the SMN1 gene on Chr.5q13. SMA spans from severe Werdnig‐Hoffmann disease (SMA 1) to relatively benign Kugelberg‐Welander disease (SMA 3). Onset before birth possibly aggravates the...

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Dades bibliogràfiques
Publicat a:Brain Pathol
Autors principals: Schmalbruch, Henning, Haase, Georg
Format: Artigo
Idioma:Inglês
Publicat: Blackwell Publishing Ltd 2006
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC8098133/
https://ncbi.nlm.nih.gov/pubmed/11303798
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1750-3639.2001.tb00395.x
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