Joseph B Nadol Jr E Tessa Hedley-Whyte Sami Samir Amr Jennifer T O Apos Malley Takefumi Kamakura
10.1159/000495176
Audiol Neurootol
2018;23(6):326-334.
charcot-marie-tooth syndrome cranial nerves histopathology myelin protein zero gene myelinopathy sensorineural hearing loss
author_manuscript
https://pubmed.ncbi.nlm.nih.gov/30677751/
Charcot-Marie-Tooth Disease / genetics Charcot-Marie-Tooth Disease / pathology Cochlear Nerve / pathology Ear, Inner / innervation Genetic Variation / genetics Mutation, Missense / genetics Myelin P0 Protein / genetics
Charcot-Marie-Tooth Disease / genetics Charcot-Marie-Tooth Disease / pathology Cochlear Nerve / pathology Ear, Inner / innervation Genetic Variation / genetics Mutation, Missense / genetics Myelin P0 Protein / genetics Case Reports Research Support, N.I.H., Extramural Aged Alanine / genetics Chromosome Aberrations Exome Sequencing Facial Nerve / pathology Genes, Dominant / genetics Humans Male Myelin Sheath / pathology Threonine / genetics Vestibular Nerve / pathology MPZ protein, human Myelin P0 Protein Threonine Alanine Charcot-Marie-Tooth disease, Type 4C
PMC6421093
30677751
Histopathology of the Inner Ear in Charcot-Marie-Tooth Syndrome Caused by a Missense Variant (p.Thr65Ala) in the MPZ Gene
2018