The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome
Abstract
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 phenotypic expression of dystonia....
Paper Details
Title
The phenotypic spectrum of dystonia in Mohr-Tranebjaerg syndrome
Published Date
Jun 26, 2012
Journal
Volume
27
Issue
8
Pages
1034 - 1040
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