TREATMENT AND DETECTION OF INHERITED NEUROPATHIES AND ASSOCIATED DISORDERS

The present disclosure relates to methods of detecting and treating inherited neuropathy. In various aspects, the method comprises detecting the presence of a mutation in the sorbitol dehydrogenase (SORD) gene in a sample from a subject. In various embodiments, th SORD mutation is a DNA variant clas...

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Bibliographische Detailangaben
Hauptverfasser:	REBELO, Adriana, CORTESE, Andrea, ZHAI, Rong Grace, HERRMANN, David N, ZUCHNER, Stephan L
Format:	Patent
Sprache:	eng ; fre
Schlagworte:	BEER BIOCHEMISTRY CHEMISTRY COMPOSITIONS OR TEST PAPERS THEREFOR COMPOSITIONS THEREOF CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES CULTURE MEDIA ENZYMOLOGY MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS METALLURGY MICROBIOLOGY MICROORGANISMS OR ENZYMES MUTATION OR GENETIC ENGINEERING PROCESSES OF PREPARING SUCH COMPOSITIONS PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS SPIRITS VINEGAR WINE
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Beschreibung
Zusammenfassung:	The present disclosure relates to methods of detecting and treating inherited neuropathy. In various aspects, the method comprises detecting the presence of a mutation in the sorbitol dehydrogenase (SORD) gene in a sample from a subject. In various embodiments, th SORD mutation is a DNA variant classified as pathogenic or likely pathogenic according to American College of Medical Genetics and Genomics (ACMG) criteria. La présente invention concerne des méthodes de détection et de traitement de neuropathies héréditaires. Dans divers aspects, le procédé comprend la détection de la présence d'une mutation dans le gène de la sorbitol déshydrogénase (SORD) dans un échantillon provenant d'un sujet. Dans divers modes de réalisation, la mutation de SORD est une variante d'ADN classée comme pathogène ou éventuellement pathogène selon les critères de l'American College of Medical Genetics and Genomics (ACMG).