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Dokumenttyp:
journal article 
Autor(en):
Synofzik, Matthis; Müller vom Hagen, Jennifer; Haack, Tobias B; Wilhelm, Christian; Lindig, Tobias; Beck-Wödl, Stefanie; Nabuurs, Sander B; van Kuilenburg, André B P; de Brouwer, Arjan P M; Schöls, Ludger 
Titel:
X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation. 
Abstract:
X-linked Charcot-Marie-Tooth disease type 5 (CMTX5), Arts syndrome, and non-syndromic sensorineural deafness (DFN2) are allelic syndromes, caused by reduced activity of phosphoribosylpyrophosphate synthetase 1 (PRS-I) due to loss-of-function mutations in PRPS1. As only few families have been described, knowledge about the relation between these syndromes, the phenotypic spectrum in patients and female carriers, and the relation to underlying PRS-I activity is limited.We investigated a family wit...    »
 
Zeitschriftentitel:
Orphanet J Rare Dis 
Jahr:
2014 
Band / Volume:
Seitenangaben Beitrag:
24 
Sprache:
eng 
TUM Einrichtung:
Institut für Humangenetik