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  • Title: Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex.
    Author: Umehara F, Takenaga S, Nakagawa M, Takahashi K, Izumo S, Matsumuro K, Sakota S, Nishimura T, Yoshikawa H, Osame M.
    Journal: Acta Neuropathol; 1993; 86(6):602-8. PubMed ID: 8310815.
    Abstract:
    The two patients in a family having the clinical and electrodiagnostic features of hereditary motor and sensory neuropathy (HMSN) are described. The main histological features of sural nerve were segmental demyelination and remyelination with moderate to marked loss of myelinated fibers, and myelin folding complex along all of the large and small myelinated fibers. These features appeared morphologically similar to those observed in HMSN with excessive myelin outfolding, or globular neuropathy. Southern blot analysis suggests that there were neither duplication nor deletion of the peripheral myelin protein-22 gene in the patients. The presented two patients may be a rare form of dominantly inherited HMSN with myelin folding complex.
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