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Adolescent spinal muscular atrophy with calf hypertrophy and a deletion in the SMN gene

✍ Scribed by Eppie M. Yiu; Sangeeta Ravat; Monique M. Ryan; Lloyd K. Shield; Lindsay J. Smith; Andrew J. Kornberg


Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
96 KB
Volume
38
Category
Article
ISSN
0148-639X

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Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder caused by mutations in the SMN1 (survival motor neuron) gene. It is classified by age of onset and maximal motor milestones achieved in type I, II, and III (severe, intermediate, and mild form, respectively). Of 369 unrel

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Spinal muscular atrophy (SMA) is a common neuromuscular disorder caused by homozygous inactivation of the SMN1 (Survival Motor Neuron 1) gene. The disease severity is mainly influenced by the copy number of SMN2, a nearly identical gene from which only low amounts of full-length mRNA are produced. T