Article
Sural nerve biopsy and functional studies support the pathogenic role of a novel MPZ mutation.
Neuropathology : official journal of the Japanese Society of Neuropathology - 1 Jun 2015
Prada Valeria, Capponi Simona, Ursino Giulia, Alberti Antonia, Callegari Ilaria, Passalacqua Mario, Marotta Roberto, Mandich Paola, Bellone Emilia, Schenone Angelo, Grandis Marina
Abstract excerpt
Our patient is a 65-year-old woman presenting with bilateral pes cavus, pronounced distal muscle wasting, weakness and areflexia. Electrophysiological findings included diffuse unrecordable motor and sensory responses. While the CMT phenotype was evident, the lack of family history and the severe, but unspecific electrophysiological impairment, was a challenge for genetic diagnosis. A sural nerve biopsy was...
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