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Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease.
Ann Neurol. 1997 Jan; 41(1):104-8.AN

Abstract

Charcot-Marie-Tooth type 1A disease is an inherited sensorimotor neuropathy that is most often associated with a duplication of chromosome 17p11.2. This region contains the gene of the peripheral myelin protein 22 (PMP22), which is responsible by a gene dosage effect for the Charcot-Marie-Tooth type 1A phenotype with 17p11.2 duplication. We performed a clinical, electrophysiological, and genetic study of a consanguinous Charcot-Marie-Tooth type 1A family with 4 affected siblings, 3 of whom were homozygous for the 17p11.2 duplication, the other a heterozygote. Comparison of phenotypes showed that the severity of the disease was variable among the homozygotes, one of whom was no more severely affected than the heterozygous sibling who was paucisymptomatic. These results suggest that the severity of the disease is not determined solely by the number of copies of the PMP22 gene.

Authors+Show Affiliations

Institut National de la Santé et de la Recherche Médicale U289, Hôpital de la Salpêtrière, Paris, France.No affiliation info availableNo 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

Language

eng

PubMed ID

9005872

Citation

LeGuern, E, et al. "Patients Homozygous for the 17p11.2 Duplication in Charcot-Marie-Tooth Type 1A Disease." Annals of Neurology, vol. 41, no. 1, 1997, pp. 104-8.
LeGuern E, Gouider R, Mabin D, et al. Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease. Ann Neurol. 1997;41(1):104-8.
LeGuern, E., Gouider, R., Mabin, D., Tardieu, S., Birouk, N., Parent, P., Bouche, P., & Brice, A. (1997). Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease. Annals of Neurology, 41(1), 104-8.
LeGuern E, et al. Patients Homozygous for the 17p11.2 Duplication in Charcot-Marie-Tooth Type 1A Disease. Ann Neurol. 1997;41(1):104-8. PubMed PMID: 9005872.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Patients homozygous for the 17p11.2 duplication in Charcot-Marie-Tooth type 1A disease. AU - LeGuern,E, AU - Gouider,R, AU - Mabin,D, AU - Tardieu,S, AU - Birouk,N, AU - Parent,P, AU - Bouche,P, AU - Brice,A, PY - 1997/1/1/pubmed PY - 1997/1/1/medline PY - 1997/1/1/entrez SP - 104 EP - 8 JF - Annals of neurology JO - Ann. Neurol. VL - 41 IS - 1 N2 - Charcot-Marie-Tooth type 1A disease is an inherited sensorimotor neuropathy that is most often associated with a duplication of chromosome 17p11.2. This region contains the gene of the peripheral myelin protein 22 (PMP22), which is responsible by a gene dosage effect for the Charcot-Marie-Tooth type 1A phenotype with 17p11.2 duplication. We performed a clinical, electrophysiological, and genetic study of a consanguinous Charcot-Marie-Tooth type 1A family with 4 affected siblings, 3 of whom were homozygous for the 17p11.2 duplication, the other a heterozygote. Comparison of phenotypes showed that the severity of the disease was variable among the homozygotes, one of whom was no more severely affected than the heterozygous sibling who was paucisymptomatic. These results suggest that the severity of the disease is not determined solely by the number of copies of the PMP22 gene. SN - 0364-5134 UR - https://www.unboundmedicine.com/medline/citation/9005872/Patients_homozygous_for_the_17p11_2_duplication_in_Charcot_Marie_Tooth_type_1A_disease_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0364-5134&date=1997&volume=41&issue=1&spage=104 DB - PRIME DP - Unbound Medicine ER -