Article
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.
Orphanet journal of rare diseases - 14 Feb 2014
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
Abstract excerpt
BACKGROUND: 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...
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