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

OBJECTIVES: 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. CASE PRESENTATION: We report this case, where the application...

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Detalles Bibliográficos
Autores principales: Lahoz Alonso, Raquel, Sienes Bailo, Paula, Capablo Liesa, Jose Luis, Álvarez de Andrés, Sara, Bancalero Flores, Jose Luis, Izquierdo Álvarez, Silvia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: De Gruyter 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197443/
https://www.ncbi.nlm.nih.gov/pubmed/37360614
http://dx.doi.org/10.1515/almed-2020-0033

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10197443/
https://www.ncbi.nlm.nih.gov/pubmed/37360614
http://dx.doi.org/10.1515/almed-2020-0033

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