An update of the mutation spectrum of th
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Brunhilde Wirth
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Article
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2000
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John Wiley and Sons
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English
⚖ 257 KB
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Spinal muscular atrophy (SMA) is characterized by degeneration of motor neurons in the spinal cord, causing progressive weakness of the limbs and trunk, followed by muscle atrophy. SMA is one of the most frequent autosomal recessive diseases, with a carrier frequency of 1 in 50 and the most common g