Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations: overlap of TWNK-related recessive disorders

Abstract Background Perrault syndrome is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing impairment and ovarian dysgenesis in females, whereas males have only hearing impairment. In some cases, patients present with a diversity of neurological si...

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Bibliographic Details
Main Authors: María Domínguez-Ruiz, Alberto García-Martínez, Marc Corral-Juan, Ángel I. Pérez-Álvarez, Ana M. Plasencia, Manuela Villamar, Miguel A. Moreno-Pelayo, Antoni Matilla-Dueñas, Manuel Menéndez-González, Ignacio del Castillo
Format: Article
Language:English
Published: BMC 2019-08-01
Series:Journal of Translational Medicine
Subjects:
Perrault syndrome
Hearing impairment
Polyneuropathy
Ataxia
Premature ovarian failure
TWNK
Online Access:http://link.springer.com/article/10.1186/s12967-019-2041-x

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