Article
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome.
Movement disorders : official journal of the Movement Disorder Society - 1 Jul 2012
Ha Ainhi D, Parratt Kaitlyn L, Rendtorff Nanna D, Lodahl Marianne, Ng Karl, Rowe Dominic B, Sue Carolyn M, Hayes Michael W, Tranebjaerg Lisbeth, Fung Victor S C
Abstract excerpt
Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive disorder characterized by deafness and dystonia. However the phenotypic expression of dystonia has not been systematically defined. We report clinical, neurophysiological, and ophthalmological data on 6 subjects from 3 Australian kindreds, including 2 with novel mutations, together with a systematic review of the literature, in order to define the...
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