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Charcot-Marie-Tooth disease: study of a large kinship with an intermediate form.
J Neurol. 1985; 232(2):91-8.JN

Abstract

A clinical, genetic, electrophysiological and ultrastructural study of a large kinship with peroneal muscular atrophy is reported. There was a noteworthy homogeneity in the phenotype as well as in the electrophysiological characteristics encountered in 15 affected members aged between 7 and 72 years. The symptoms appeared first in the second decade of life and stabilized by the fourth decade. There was no evidence of linkage of the neuropathy gene to the Duffy blood group locus on chromosome 1. The electrophysiological data in this family as well as the ultrastructural findings confirm that there is heterogeneity in hereditary motor and sensory neuropathy type I, and support the concept of an intermediate form of Charcot-Marie-Tooth disease.

Authors

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Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

4020397

Citation

Rossi, A, et al. "Charcot-Marie-Tooth Disease: Study of a Large Kinship With an Intermediate Form." Journal of Neurology, vol. 232, no. 2, 1985, pp. 91-8.
Rossi A, Paradiso C, Cioni R, et al. Charcot-Marie-Tooth disease: study of a large kinship with an intermediate form. J Neurol. 1985;232(2):91-8.
Rossi, A., Paradiso, C., Cioni, R., Rizzuto, N., & Guazzi, G. (1985). Charcot-Marie-Tooth disease: study of a large kinship with an intermediate form. Journal of Neurology, 232(2), 91-8.
Rossi A, et al. Charcot-Marie-Tooth Disease: Study of a Large Kinship With an Intermediate Form. J Neurol. 1985;232(2):91-8. PubMed PMID: 4020397.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Charcot-Marie-Tooth disease: study of a large kinship with an intermediate form. AU - Rossi,A, AU - Paradiso,C, AU - Cioni,R, AU - Rizzuto,N, AU - Guazzi,G, PY - 1985/1/1/pubmed PY - 1985/1/1/medline PY - 1985/1/1/entrez SP - 91 EP - 8 JF - Journal of neurology JO - J. Neurol. VL - 232 IS - 2 N2 - A clinical, genetic, electrophysiological and ultrastructural study of a large kinship with peroneal muscular atrophy is reported. There was a noteworthy homogeneity in the phenotype as well as in the electrophysiological characteristics encountered in 15 affected members aged between 7 and 72 years. The symptoms appeared first in the second decade of life and stabilized by the fourth decade. There was no evidence of linkage of the neuropathy gene to the Duffy blood group locus on chromosome 1. The electrophysiological data in this family as well as the ultrastructural findings confirm that there is heterogeneity in hereditary motor and sensory neuropathy type I, and support the concept of an intermediate form of Charcot-Marie-Tooth disease. SN - 0340-5354 UR - https://www.unboundmedicine.com/medline/citation/4020397/Charcot_Marie_Tooth_disease:_study_of_a_large_kinship_with_an_intermediate_form_ L2 - http://www.diseaseinfosearch.org/result/1276 DB - PRIME DP - Unbound Medicine ER -