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Pregnancy and spinal muscular atrophy

✍ Scribed by Sabine Rudnik-Schöneborn; Klaus Zerres; Jaakko Ignatius; Marcella Rietschel

Publisher: Springer
Year: 1992
Tongue: English
Weight: 471 KB
Volume: 239
Category: Article
ISSN: 0340-5354
DOI: 10.1007/bf00839207

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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