Uterus infantilis: a novel phenotype associated with AARS2 new genetic variants. A case report

Uterus infantilis: a novel phenotype associated with AARS2 new genetic variants. A case report

ObjectivesTo report the first Mexican case with two novel AARS2 mutations causing primary ovarian failure, uterus infantilis, and early-onset dementia secondary to leukoencephalopathy.MethodsDetailed clinical, clinimetric, neuroimaging features, muscle biopsy with biochemical assays of the main oxid...

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Main Authors: Ekaterina Kazakova, José Alberto Téllez-Martínez, Leonardo Flores-Lagunes, Ana Luisa Sosa-Ortiz, Karol Carillo-Sánchez, Carolina Molina-Garay, Carlos Alberto González-Domínguez, Marco Jimenez-Olivares, Francisca Fernandez-Valverde, Edwin Steven Vargas-Cañas, Martha Elisa Vázquez-Memije, Ethel Awilda Garcia-Latorre, Iván Martínez-Duncker, Carmen Alaez-Verson
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-06-01
Series:Frontiers in Neurology
Subjects:
mitochondrial aminoacyl-tRNA synthetase
AARS2
adult-onset leukodystrophy
progressive leukoencephalopathy with ovarian failure
uterus infantilis
alanyl-transfer RNA synthetase 2 mutation-related leukodystrophy
Online Access:https://www.frontiersin.org/articles/10.3389/fneur.2023.878446/full

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https://www.frontiersin.org/articles/10.3389/fneur.2023.878446/full

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