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  • Title: Hereditary motor and sensory neuropathy with deafness, mental retardation and absence of large myelinated fibers.
    Author: Mancardi GL, Di Rocco M, Schenone A, Veneselli E, Doria M, Abbruzzese M, Tabaton M, Borrone C.
    Journal: J Neurol Sci; 1992 Jul; 110(1-2):121-30. PubMed ID: 1506851.
    Abstract:
    Two brothers with a presumably hereditary motor and sensory polyneuropathy (HMSN), sensory-neural hearing loss and mental retardation had clinical features and neuropathological changes in the sural nerve which may set the disorder apart from previously described types of HMSN. Consecutive sural nerve biopsies from one case showed absence of large myelinated fibers and a normal complement of small fibers. We infer from our findings that a developmental abnormality with faulty growth and subsequent axonal atrophy may be responsible.
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