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Journal article

Spinal muscular atrophy.

Abstract:

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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Publication status:
Published

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Publisher copy:
10.1055/s-2001-15264

Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Physiology Anatomy & Genetics
Role:
Author
Journal:
Seminars in neurology More from this journal
Volume:
21
Issue:
2
Pages:
189-197
Publication date:
2001-06-01
DOI:
EISSN:
1098-9021
ISSN:
0271-8235
Language:
English
Keywords:
Pubs id:
pubs:106380
UUID:
uuid:0c06b845-ae7c-4c70-8ed3-d59ad68771e0
Local pid:
pubs:106380
Source identifiers:
106380
Deposit date:
2012-12-19

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