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    Acta Neuropathol. 1994;87(1):91-7.

    Tomaculous neuropathy in chromosome 1 Charcot-Marie-Tooth syndrome.

    Thomas FP, Lebo RV, Rosoklija G, Ding XS, Lovelace RE, Latov N, Hays AP.

    Department of Pathology (Division of Neuropathology), College of Physicians & Surgeons, Columbia University, New York, NY.

    We performed morphological and immunohistochemical studies on sural nerve biopsies from two members of a Charcot-Marie-Tooth type 1B family, in which a mutation of the P0 gene on chromosome 1 had been found. Biopsies showed a tomaculous neuropathy with loss of myelinated fibers and frequent small onion bulbs. Immunofluorescence with antibodies to P0 showed this protein to be present in tomaculous and non-tomaculous areas of the myelin sheath. The severity of the myelin abnormalities suggests that in this family Charcot-Marie-Tooth disease may result from a generalized disturbance of Schwann cells as a result of an abnormal P0 protein.

    PMID: 7511317 [PubMed - indexed for MEDLINE]

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