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Demyelinating Charcot-Marie-Tooth neuropathy associated with FBLN5 mutations.
Eur J Neurol. 2020 Dec;27(12):2568-2574. doi: 10.1111/ene.14463. Epub 2020 Sep 5.
Eur J Neurol. 2020.
PMID: 32757322
Moderate sensorineural hearing loss is typical for DFNB16 caused by various types of mutations affecting the STRC gene.
Čada Z, Šafka Brožková D, Balatková Z, Plevová P, Rašková D, Laštůvková J, Černý R, Bandúrová V, Koucký V, Hrubá S, Komarc M, Jenčík J, Poisson Marková S, Plzák J, Kluh J, Seeman P.
Čada Z, et al.
Eur Arch Otorhinolaryngol. 2019 Dec;276(12):3353-3358. doi: 10.1007/s00405-019-05649-5. Epub 2019 Sep 24.
Eur Arch Otorhinolaryngol. 2019.
PMID: 31552524
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