Article
Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation.
Journal of neurology, neurosurgery, and psychiatry - 1 Oct 2004
Kurihara S, Adachi Y, Imai C, Araki H, Hattori N, Numakura C, Lin Y, Hayasaka K, Sobue G, Nakashima K
Abstract excerpt
BACKGROUND: The MPZ Thr124Met mutation is characterised by a late onset, pupillary abnormality, deafness, normal or moderate decreased motor nerve conduction velocity, and axonal damage in sural nerve biopsy. OBJECTIVE: To investigate the clinical manifestations of the axonal or demyelinating forms of the Japanese MPZ Thr124Met mutation originating in four different areas: Tottori, Nara, Aichi, and Ibaragi....
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