Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series
About this item
Full title
Author / Creator
Lerat, Justine , Magdelaine, Corinne , Roux, Anne‐Françoise , Darnaud, Léa , Beauvais‐Dzugan, Hélène , Naud, Steven , Richard, Laurence , Derouault, Paco , Ghorab, Karima , Magy, Laurent , Vallat, Jean‐Michel , Cintas, Pascal , Bieth, Eric , Arne‐Bes, Marie‐Christine , Goizet, Cyril , Espil‐Taris, Caroline , Journel, Hubert , Toutain, Annick , Urtizberea, Jon Andoni , Boespflug‐Tanguy, Odile , Laffargue, Fanny , Corcia, Philippe , Pasquier, Laurent , Fradin, Mélanie , Napuri, Sylva , Ciron, Jonathan , Boulesteix, Jean‐Marc , Sturtz, Franck and Lia, Anne‐Sophie
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Background
The most common inherited peripheral neuropathy is Charcot‐Marie‐Tooth disease (CMT), with a prevalence of 1/2500. Other symptoms can be associated to the condition, such as hearing loss. Currently, no global hearing impairment assessment has been determined, and the physiopathology is not well known.
Methods
The aim of the stud...
Alternative Titles
Full title
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series
Authors, Artists and Contributors
Author / Creator
Magdelaine, Corinne
Roux, Anne‐Françoise
Darnaud, Léa
Beauvais‐Dzugan, Hélène
Naud, Steven
Richard, Laurence
Derouault, Paco
Ghorab, Karima
Magy, Laurent
Vallat, Jean‐Michel
Cintas, Pascal
Bieth, Eric
Arne‐Bes, Marie‐Christine
Goizet, Cyril
Espil‐Taris, Caroline
Journel, Hubert
Toutain, Annick
Urtizberea, Jon Andoni
Boespflug‐Tanguy, Odile
Laffargue, Fanny
Corcia, Philippe
Pasquier, Laurent
Fradin, Mélanie
Napuri, Sylva
Ciron, Jonathan
Boulesteix, Jean‐Marc
Sturtz, Franck
Lia, Anne‐Sophie
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_fdb0f976071c48fd91636d29f0c9cf51
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_fdb0f976071c48fd91636d29f0c9cf51
Other Identifiers
ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.839
