Article
KCC3 axonopathy: neuropathological features in the central and peripheral nervous system.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc - 1 Sept 2016
Auer Roland N, Laganière Janet L, Robitaille Yves O, Richardson John, Dion Patrick A, Rouleau Guy A, Shekarabi Masoud
Abstract excerpt
Hereditary motor and sensory neuropathy associated with agenesis of the corpus callosum (HMSN/ACC) is an autosomal recessive disease of the central and peripheral nervous system that presents as early-onset polyneuropathy. Patients are hypotonic and areflexic from birth, with abnormal facial features and atrophic muscles. Progressive peripheral neuropathy eventually confines them to a wheelchair in the second...
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