A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years

Describe a case with axonal Charcot-Marie-Tooth (CMT) type 2W, a neurological disease characterized by peripheral neuropathy typically involving the lower limbs and causing gait alterations and distal sensory-motor impairment.

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Autores principales:	Lahoz Alonso Raquel, Sienes Bailo Paula, Capablo Liesa Jose Luis, Álvarez de Andrés Sara, Bancalero Flores Jose Luis, Izquierdo Álvarez Silvia
Formato:	article
Lenguaje:	EN ES
Publicado:	De Gruyter 2020
Materias:	charcot-marie-tooth disease, axonal, type 2w exome hars protein, human Medical technology R855-855.5
Acceso en línea:	https://doaj.org/article/5058177012044f7a833189763f4c1dcc
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spelling	oai:doaj.org-article:5058177012044f7a833189763f4c1dcc2021-12-05T14:10:39ZA variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years2628-491X10.1515/almed-2020-0033https://doaj.org/article/5058177012044f7a833189763f4c1dcc2020-05-01T00:00:00Zhttps://doi.org/10.1515/almed-2020-0033https://doaj.org/toc/2628-491XDescribe a case with axonal Charcot-Marie-Tooth (CMT) type 2W, a neurological disease characterized by peripheral neuropathy typically involving the lower limbs and causing gait alterations and distal sensory-motor impairment.Lahoz Alonso RaquelSienes Bailo PaulaCapablo Liesa Jose LuisÁlvarez de Andrés SaraBancalero Flores Jose LuisIzquierdo Álvarez SilviaDe Gruyterarticlecharcot-marie-tooth disease, axonal, type 2wexomehars protein, humanMedical technologyR855-855.5ENESAdvances in Laboratory Medicine, Vol 1, Iss 4, Pp 654-67 (2020)
institution	DOAJ
collection	DOAJ
language	EN ES
topic	charcot-marie-tooth disease, axonal, type 2w exome hars protein, human Medical technology R855-855.5
spellingShingle	charcot-marie-tooth disease, axonal, type 2w exome hars protein, human Medical technology R855-855.5 Lahoz Alonso Raquel Sienes Bailo Paula Capablo Liesa Jose Luis Álvarez de Andrés Sara Bancalero Flores Jose Luis Izquierdo Álvarez Silvia A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years
description	Describe a case with axonal Charcot-Marie-Tooth (CMT) type 2W, a neurological disease characterized by peripheral neuropathy typically involving the lower limbs and causing gait alterations and distal sensory-motor impairment.
format	article
author	Lahoz Alonso Raquel Sienes Bailo Paula Capablo Liesa Jose Luis Álvarez de Andrés Sara Bancalero Flores Jose Luis Izquierdo Álvarez Silvia
author_facet	Lahoz Alonso Raquel Sienes Bailo Paula Capablo Liesa Jose Luis Álvarez de Andrés Sara Bancalero Flores Jose Luis Izquierdo Álvarez Silvia
author_sort	Lahoz Alonso Raquel
title	A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years
title_short	A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years
title_full	A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years
title_fullStr	A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years
title_full_unstemmed	A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years
title_sort	variant of the gene hars detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years
publisher	De Gruyter
publishDate	2020
url	https://doaj.org/article/5058177012044f7a833189763f4c1dcc
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A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years

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