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Newborn and carrier screening for spinal muscular atrophy

✍ Scribed by Thomas W. Prior; Pamela J. Snyder; Britton D. Rink; Dennis K. Pearl; Robert E. Pyatt; David C. Mihal; Todd Conlan; Betsy Schmalz; Laura Montgomery; Katie Ziegler; Carolee Noonan; Sayaka Hashimoto; Shannon Garner

Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
183 KB
Volume
152A
Category
Article
ISSN
1552-4825

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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