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Histopathology of the inner ear in Charcot-Marie-Tooth Syndrome caused by a missense variant (p.Thr65Ala) in the MPZ gene

Charcot-Marie-Tooth syndrome (CMT) is a clinically and genetically heterogeneous group of neuropathies affecting both peripheral motor and sensory nerves. Progressive sensorineural hearing loss, vestibular abnormalities, and dysfunction of other cranial nerves have been described. This is the second...

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Détails bibliographiques
Publié dans:Audiol Neurootol
Auteurs principaux: Nadol, Joseph B., Hedley-Whyte, E. Tessa, Amr, Sami Samir, O’Malley, Jennifer T., Kamakura, Takefumi
Format: Artigo
Langue:Inglês
Publié: 2019
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC6421093/
https://ncbi.nlm.nih.gov/pubmed/30677751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000495176
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