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Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I).
Ann Neurol. 1983 Dec; 14(6):679-84.AN

Abstract

A genetic linkage study performed on a large family with autosomal dominant Charcot-Marie-Tooth neuropathy (HMSN type I) showed affected family members to have slow motor nerve conduction velocities, hypoactive tendon reflexes, and distal muscle weakness and atrophy. Results excluded close linkage of the neuropathy in this family to the Duffy blood group locus on chromosome 1. Previous studies in other families have shown positive linkage of HMSN type I to the Duffy locus. The present results provide support for the concept of genetic heterogeneity in HMSN type I. Comparison of this new family with the previous families showing linkage to Duffy reveals that the hereditary neuropathy not linked to the Duffy locus may have less severe slowing of motor nerve conduction velocities and less prominent onion bulb change evident on sural nerve biopsy.

Authors

No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.

Language

eng

PubMed ID

6651251

Citation

Bird, T D., et al. "Genetic Linkage Evidence for Heterogeneity in Charcot-Marie-Tooth Neuropathy (HMSN Type I)." Annals of Neurology, vol. 14, no. 6, 1983, pp. 679-84.
Bird TD, Ott J, Giblett ER, et al. Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I). Ann Neurol. 1983;14(6):679-84.
Bird, T. D., Ott, J., Giblett, E. R., Chance, P. F., Sumi, S. M., & Kraft, G. H. (1983). Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I). Annals of Neurology, 14(6), 679-84.
Bird TD, et al. Genetic Linkage Evidence for Heterogeneity in Charcot-Marie-Tooth Neuropathy (HMSN Type I). Ann Neurol. 1983;14(6):679-84. PubMed PMID: 6651251.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic linkage evidence for heterogeneity in Charcot-Marie-Tooth neuropathy (HMSN type I). AU - Bird,T D, AU - Ott,J, AU - Giblett,E R, AU - Chance,P F, AU - Sumi,S M, AU - Kraft,G H, PY - 1983/12/1/pubmed PY - 1983/12/1/medline PY - 1983/12/1/entrez SP - 679 EP - 84 JF - Annals of neurology JO - Ann. Neurol. VL - 14 IS - 6 N2 - A genetic linkage study performed on a large family with autosomal dominant Charcot-Marie-Tooth neuropathy (HMSN type I) showed affected family members to have slow motor nerve conduction velocities, hypoactive tendon reflexes, and distal muscle weakness and atrophy. Results excluded close linkage of the neuropathy in this family to the Duffy blood group locus on chromosome 1. Previous studies in other families have shown positive linkage of HMSN type I to the Duffy locus. The present results provide support for the concept of genetic heterogeneity in HMSN type I. Comparison of this new family with the previous families showing linkage to Duffy reveals that the hereditary neuropathy not linked to the Duffy locus may have less severe slowing of motor nerve conduction velocities and less prominent onion bulb change evident on sural nerve biopsy. SN - 0364-5134 UR - https://www.unboundmedicine.com/medline/citation/6651251/Genetic_linkage_evidence_for_heterogeneity_in_Charcot_Marie_Tooth_neuropathy__HMSN_type_I__ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0364-5134&date=1983&volume=14&issue=6&spage=679 DB - PRIME DP - Unbound Medicine ER -