Article

An update of the mutation spectrum of the survival motor neuron gene (SMN1) in autosomal recessive spinal muscular atrophy (SMA)

2000-03-01

Abstract excerpt

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 genetic cause of childhood mortality. The phenotype is extremely variable, and patients have been classified in type I...

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Literature Corpus work: fed4a33e-be45-55c5-a702-a3f64f2fa2cb
DOI: 10.1002/(sici)1098-1004(200003)15:3<228::aid-humu3>3.3.co;2-0

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