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[Roussy-Lévy syndrome with a duplication on peripheral myelin protein gene (PMP22)].
Rinsho Shinkeigaku. 2000 Jul; 40(7):750-2.RS

Abstract

A 51-year-old woman with autosomal dominant inheritance presented with finger tremor, atrophy of the dorsal interosseous muscles, and pes cavus. No muscular atrophy was noted in either leg. The deep tendon reflexes were only present for the biceps muscle of the arm, although they were decreased. Progression was extremely slow. Biopsy of the sural nerve revealed onion bulbs. The patient was diagnosed as a case of Roussy-Lévy syndrome. Her father and son had same symptoms. Typical Charcot-Marie-Tooth disease type 1A (CMT 1A) was also detected in the same family. All 4 cases revealed duplication of the PMP22 gene. In view of the molecular genetic findings, her Roussy-Lévy syndrome was considered to resemble CMT 1A.

Authors+Show Affiliations

Department of Neurology, Tottori City Hospital.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

jpn

PubMed ID

11186918

Citation

Wake, Y, et al. "[Roussy-Lévy Syndrome With a Duplication On Peripheral Myelin Protein Gene (PMP22)]." Rinsho Shinkeigaku = Clinical Neurology, vol. 40, no. 7, 2000, pp. 750-2.
Wake Y, Kanzaki A, Shirabe T. [Roussy-Lévy syndrome with a duplication on peripheral myelin protein gene (PMP22)]. Rinsho Shinkeigaku. 2000;40(7):750-2.
Wake, Y., Kanzaki, A., & Shirabe, T. (2000). [Roussy-Lévy syndrome with a duplication on peripheral myelin protein gene (PMP22)]. Rinsho Shinkeigaku = Clinical Neurology, 40(7), 750-2.
Wake Y, Kanzaki A, Shirabe T. [Roussy-Lévy Syndrome With a Duplication On Peripheral Myelin Protein Gene (PMP22)]. Rinsho Shinkeigaku. 2000;40(7):750-2. PubMed PMID: 11186918.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Roussy-Lévy syndrome with a duplication on peripheral myelin protein gene (PMP22)]. AU - Wake,Y, AU - Kanzaki,A, AU - Shirabe,T, PY - 2001/2/24/pubmed PY - 2001/3/7/medline PY - 2001/2/24/entrez SP - 750 EP - 2 JF - Rinsho shinkeigaku = Clinical neurology JO - Rinsho Shinkeigaku VL - 40 IS - 7 N2 - A 51-year-old woman with autosomal dominant inheritance presented with finger tremor, atrophy of the dorsal interosseous muscles, and pes cavus. No muscular atrophy was noted in either leg. The deep tendon reflexes were only present for the biceps muscle of the arm, although they were decreased. Progression was extremely slow. Biopsy of the sural nerve revealed onion bulbs. The patient was diagnosed as a case of Roussy-Lévy syndrome. Her father and son had same symptoms. Typical Charcot-Marie-Tooth disease type 1A (CMT 1A) was also detected in the same family. All 4 cases revealed duplication of the PMP22 gene. In view of the molecular genetic findings, her Roussy-Lévy syndrome was considered to resemble CMT 1A. SN - 0009-918X UR - https://www.unboundmedicine.com/medline/citation/11186918/[Roussy_Lévy_syndrome_with_a_duplication_on_peripheral_myelin_protein_gene__PMP22_]_ L2 - http://www.diseaseinfosearch.org/result/6365 DB - PRIME DP - Unbound Medicine ER -