Spinal Muscular Atrophy
Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by a genetic defect in the SMN1 gene that codes SMN, a protein widely expressed in all eukaryotic cells. SMN1 is apparently selectively necessary for survival of motor neurons, as diminished abundance of the protein results in death of neuronal cells in the anterior horn of the spinal cord and subsequent system-wide muscle wasting (atrophy).
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Some articles on spinal muscular atrophy:
... G11.8) Other hereditary ataxias (G11.9) Hereditary ataxia, unspecified (G12) Spinal muscular atrophy and related syndromes (G12.0) Werdnig-Hoffman disease (Type 1) (G12.1) Other inherited spinal muscular atrophy ...
... the number of SMN transcripts in spinal muscular atrophy cells, most probably through modulation of alternative splicing ...
... syndrome Bronze Diabetes Bronzed cirrhosis Bulbospinal muscular atrophy, X-linked Burger-Grutz syndrome CADASIL syndrome P 3 CGD Chronic granulomatous disorder Campomelic dysplasia C 17q24.3-q25.1 ...
... SMA Treatment Acceleration Act Spinal muscular atrophies Motor neuron disease Survival of motor neuron Spinal muscular atrophy with respiratory distress ...
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