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Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex.
Acta Neuropathol. 1993; 86(6):602-8.AN

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.

Authors+Show Affiliations

Third Department of Internal Medicine, Faculty of Medicine, Kagoshima University, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

8310815

Citation

Umehara, F, et al. "Dominantly Inherited Motor and Sensory Neuropathy With Excessive Myelin Folding Complex." Acta Neuropathologica, vol. 86, no. 6, 1993, pp. 602-8.
Umehara F, Takenaga S, Nakagawa M, et al. Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex. Acta Neuropathol. 1993;86(6):602-8.
Umehara, F., Takenaga, S., Nakagawa, M., Takahashi, K., Izumo, S., Matsumuro, K., Sakota, S., Nishimura, T., Yoshikawa, H., & Osame, M. (1993). Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex. Acta Neuropathologica, 86(6), 602-8.
Umehara F, et al. Dominantly Inherited Motor and Sensory Neuropathy With Excessive Myelin Folding Complex. Acta Neuropathol. 1993;86(6):602-8. PubMed PMID: 8310815.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Dominantly inherited motor and sensory neuropathy with excessive myelin folding complex. AU - Umehara,F, AU - Takenaga,S, AU - Nakagawa,M, AU - Takahashi,K, AU - Izumo,S, AU - Matsumuro,K, AU - Sakota,S, AU - Nishimura,T, AU - Yoshikawa,H, AU - Osame,M, PY - 1993/1/1/pubmed PY - 1993/1/1/medline PY - 1993/1/1/entrez SP - 602 EP - 8 JF - Acta neuropathologica JO - Acta Neuropathol. VL - 86 IS - 6 N2 - 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. SN - 0001-6322 UR - https://www.unboundmedicine.com/medline/citation/8310815/Dominantly_inherited_motor_and_sensory_neuropathy_with_excessive_myelin_folding_complex_ L2 - http://www.diseaseinfosearch.org/result/4890 DB - PRIME DP - Unbound Medicine ER -