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 of massive genetic sequencing (NGS) with clinical exome in a molecular genetics laboratory enabled to detect the presence of candidate variants of the clinic of the patient. Conclusions: The variant detected in HARS gene suggests that this variant could be causative of the symptoms of the patient, who went undiagnosed for 20 years and experienced an exacerbation of symptoms over time.
- Standort
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Deutsche Nationalbibliothek Frankfurt am Main
- Umfang
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Online-Ressource
- Sprache
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Englisch
- Erschienen in
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A variant of the gene HARS detected in the clinical exome: etiology of a peripheral neuropathy undiagnosed for 20 years ; volume:1 ; number:4 ; year:2020 ; extent:06
Advances in laboratory medicine ; 1, Heft 4 (2020) (gesamt 06)
- Urheber
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Lahoz Alonso, Raquel
Sienes Bailo, Paula
Capablo Liesa, Jose Luis
Álvarez de Andrés, Sara
Bancalero Flores, Jose Luis
Izquierdo Álvarez, Silvia
- DOI
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10.1515/almed-2020-0033
- URN
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urn:nbn:de:101:1-2023061414083520919817
- Rechteinformation
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Open Access; Der Zugriff auf das Objekt ist unbeschränkt möglich.
- Letzte Aktualisierung
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14.08.2025, 10:53 MESZ
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Beteiligte
- Lahoz Alonso, Raquel
- Sienes Bailo, Paula
- Capablo Liesa, Jose Luis
- Álvarez de Andrés, Sara
- Bancalero Flores, Jose Luis
- Izquierdo Álvarez, Silvia
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