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Emerging treatment options for spinal muscular atrophy

✍ Scribed by Barrington G. Burnett; Thomas O. Crawford; Charlotte J. Sumner

Book ID: 107558994
Publisher: Springer
Year: 2009
Tongue: English
Weight: 493 KB
Volume: 11
Category: Article
ISSN: 1092-8480
DOI: 10.1007/s11940-009-0012-x

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Spinal muscular atrophy is an autosomal recessive motor neuron disease that is the leading inherited cause of infant and early childhood mortality. Spinal muscular atrophy is caused by mutation of the telomeric copy of the survival motor neuron gene (SMN1), but all patients retain a centromeric copy