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
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Acceso en línea:https://doaj.org/article/5058177012044f7a833189763f4c1dcc
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