X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping

X-linked infantile spinal-muscular atrophy (XL-SMA) is a rare disorder, which presents with the clinical characteristics of hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior horn cells and death in infancy. We have previously reported a sing...

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Veröffentlicht in:	Genetics in medicine 2007-01, Vol.9 (1), p.52-60
Hauptverfasser:	Dressman, Devin, Ahearn, Mary Ellen, Yariz, Kemal O, Basterrecha, Hugo, Martínez, Francisco, Palau, Francesc, Barmada, M Michael, Clark, Robin Dawn, Meindl, Alfons, Wirth, Brunhilde, Hoffman, Eric P, Baumbach-Reardon, Lisa
Format:	Artikel
Sprache:	eng
Schlagworte:	Chromosome Mapping Chromosomes, Human, X DNA - genetics Family Female Genetic Linkage - genetics Humans Infant Infant, Newborn Male Microsatellite Repeats Pedigree Spinal Muscular Atrophies of Childhood - genetics
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