Spinal muscular atrophy.

Journal article

The spinal muscular atrophies are a group of mostly inherited disorders selectively affecting the lower motor neuron. There is a wide degree of clinical and genetic heterogeneity that must be taken into account when giving prognostic information. Autosomal recessive childhood proximal SMA is the commonest form and is due to mutations in a gene encoding a novel protein, SMN, that appears to play a critical role in RNA metabolism but has also been shown to interact with actin-binding proteins a...

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Authors: Talbot, K; Davies, K

• Publication status: Published
• Journal: Seminars in neurology
• Volume: 21
• Issue: 2
• Pages: 189-197
• Publication date: 2001-06-01
• DOI: 10.1055/s-2001-15264
• EISSN: 1098-9021
• ISSN: 0271-8235
• Language: English
• Keywords: Infant; RNA-Binding Proteins; Nerve Tissue Proteins; Muscular Atrophy, Spinal; Humans; SMN Complex Proteins; Child; Cyclic AMP Response Element-Binding Protein; Motor Neurons; Adult