Artículo

Involuntary moaning in a Hispanic family with eight affected members

Gisatulin, Maria; Rossi, Malco DamianIcon ; Perandones, Claudia; Klein, Christine; Lohmann, Katja; Merello, Marcelo JorgeIcon
Fecha de publicación: 08/2021
Editorial: Elsevier
Revista: Parkinsonism & Related Disorders
ISSN: 1353-8020
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:

Resumen

Involuntary moaning has been reported in sporadic cases of neurodegenerative diseases. A five-generation Hispanic family with eight members exhibiting involuntary moaning, most of whom with isolated moaning in the absence of any additional neurological disorder carried a missense variant in the NEFH gene segregating in the family.
Palabras clave: CHARCOT-MARIE-TOOTH DISEASE , EXOME SEQUENCING , GROANING , MOANING , PARKINSON'S DISEASE
 
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Licencia
info:eu-repo/semantics/restrictedAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Atribución-NoComercial-SinDerivadas 2.5 Argentina (CC BY-NC-ND 2.5 AR)
Identificadores
URI: http://hdl.handle.net/11336/216571
DOI: http://dx.doi.org/10.1016/j.parkreldis.2021.03.023
URL: https://www.sciencedirect.com/science/article/pii/S1353802021001164
Colecciones
Articulos (INEU)
Articulos de INSTITUTO DE NEUROCIENCIAS
Articulos(SEDE CENTRAL)
Articulos de SEDE CENTRAL
Citación
Gisatulin, Maria; Rossi, Malco Damian; Perandones, Claudia; Klein, Christine; Lohmann, Katja; et al.; Involuntary moaning in a Hispanic family with eight affected members; Elsevier; Parkinsonism & Related Disorders; 89; 8-2021; 206-208
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