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: | , , , , , |
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| Formato: | article |
| Lenguaje: | EN ES |
| Publicado: |
De Gruyter
2020
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| Materias: | |
| Acceso en línea: | https://doaj.org/article/5058177012044f7a833189763f4c1dcc |
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| Sumario: | 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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