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Dokumenttyp:
journal article 
Autor(en):
Dressman, D; Ahearn, ME; Yariz, KO; Basterrecha, H; Martínez, F; Palau, F; Barmada, MM; Clark, RD; Meindl, A; Wirth, B; Hoffman, EP; Baumbach-Reardon, L 
Titel:
X-linked infantile spinal muscular atrophy: clinical definition and molecular mapping. 
Abstract:
PURPOSE: 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 single family with XL-SMA that mapped to Xp11.3-q11.2. Here we report further clinical description of XL-SMA plus an additional seven unrelated (XL-SMA) families from North America and Europe tha...    »
 
Zeitschriftentitel:
Genet Med 
Jahr:
2007 
Band / Volume:
Heft / Issue:
Seitenangaben Beitrag:
52-60 
Sprache:
eng 
Print-ISSN:
1098-3600 
TUM Einrichtung:
Frauenklinik und Poliklinik