Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
medicine
Peripheral Myelin Protein 22 gene duplication with atypical presentations: A new example of the wide spectrum of Charcot-Marie-Tooth 1A disease
Neuromuscular Disorders, Volume 24, No. 6, Year 2014
Notification
URL copied to clipboard!
Description
Charcot-Marie-Tooth type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are both autosomal-dominant disorders linked to peripheral myelin anomalies. CMT1A is associated with a Peripheral Myelin Protein 22 (PMP22) duplication, whereas HNPP is due to a PMP22 deletion on chromosome 17. In spite of this crucial difference, we report three observations of patients with the 1.4 megabase CMT1A duplication and atypical presentation (electrophysiological, clinical or pathological): a 10 year-old girl with tomaculous lesions on nerve biopsy; a 26 year-old woman with recurrent paresthesiae and block conduction on the electrophysiological study; a 46 year-old woman with transient recurrent nerve palsies mimicking HNPP. These observations highlight the wide spectrum of CMT1A and the overlap between CMT1A and HNPP (both linked to the PMP22 gene), and finally illustrate the complexity of the genotype-phenotype correlations in Charcot-Marie-Tooth diseases. © 2014 Elsevier B.V.
Authors & Co-Authors
Mathis, Stéphane
France, Poitiers
Universite de Poitiers
Corcia, Philippe
France, Tours
Centre Hospitalier Regional et Universitaire de Tours
Tazir, Mériem
Algeria, Algiers
Centre Hospitalo-universitaire de Mustapha Bacha
Camu, William
France, Montpellier
Hopital Gui de Chauliac
Magdelaine, Corinne
France, Limoges
Chu de Limoges
Latour, Philippe
France, Lyon
Chu de Lyon
Biberon, Julien
France, Tours
Centre Hospitalier Regional et Universitaire de Tours
Guennoc, Anne Marie
France, Tours
Centre Hospitalier Regional et Universitaire de Tours
Richard, Laurence
France, Limoges
Chu de Limoges
Magy, Laurent
France, Limoges
Chu de Limoges
Funalot, Benoi̧t
France, Limoges
Chu de Limoges
Vallat, Jean Michel
France, Limoges
Chu de Limoges
Statistics
Citations: 20
Authors: 12
Affiliations: 6
Identifiers
Doi:
10.1016/j.nmd.2014.03.014
ISSN:
09608966
e-ISSN:
18732364
Research Areas
Genetics And Genomics
Participants Gender
Female