Clinical and genetic analysis of a patient with Krabbe disease presented as peripheral neuropathy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 821-825, 2019.
Artículo
en Chino
| WPRIM
| ID: wpr-776797
ABSTRACT
OBJECTIVE@#To explore the clinical, electrophysiological and imaging features of a patient with Krabbe disease caused by GALC mutation.@*METHODS@#A comprehensive analysis including clinical investigation and genetic testing was carried out.@*RESULTS@#The patient presented with peripheral neuropathy with electrophysiological anomaly suggestive of asymmetric demyelinating neuropathy. Brain imaging revealed leukoencephalopathy. Genetic analysis has identified compound heterozygous mutations in exons 5 and 11 of the GALC gene, namely c.461C>A and c.1244G>A.@*CONCLUSION@#Krabbe disease is a group of disorders featuring substantial phenotypic heterogeneity. Genetic and enzyme testing has become indispensable for accurate diagnosis for this disease.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Análisis Mutacional de ADN
/
Pruebas Genéticas
/
Enfermedades del Sistema Nervioso Periférico
/
Galactosilceramidasa
/
Genética
/
Leucodistrofia de Células Globoides
/
Mutación
Límite:
Humanos
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2019
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS