Mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13

Distal spinal muscular atrophy is a heterogeneous group of neuromuscular disorders caused by progressive anterior horn cell degeneration and characterized by progressive motor weakness and muscular atrophy, predominantly in the distal parts of the limbs. Here we report on chronic autosomal recessive...

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Veröffentlicht in:	Annals of neurology 2002-05, Vol.51 (5), p.585-592
Hauptverfasser:	Viollet, Louis, Barois, Annie, Rebeiz, Jean G., Rifai, Ziad, Burlet, Philippe, Zarhrate, Mohammed, Vial, Elodie, Dessainte, Michel, Estournet, Brigitte, Kleinknecht, Bernard, Pearn, John, Adams, Raymond D., Urtizberea, Jon A., Cros, Didier P., Bushby, Kate, Munnich, Arnold, Lefebvre, Suzie
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Biological and medical sciences Child Chromosome Mapping - methods Chromosomes, Human, Pair 11 - genetics Chronic Disease Cyclic AMP Response Element-Binding Protein Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Genes, Recessive Genetic Markers Humans Male Medical sciences Microsatellite Repeats - genetics Muscular Atrophy, Spinal - genetics Nerve Tissue Proteins - genetics Neurology Pedigree RNA-Binding Proteins SMN Complex Proteins
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