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.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-776797
Biblioteca responsável:
WPRO
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:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Análise Mutacional de DNA
/
Testes Genéticos
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Doenças do Sistema Nervoso Periférico
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Galactosilceramidase
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Genética
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Leucodistrofia de Células Globoides
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Mutação
Limite:
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2019
Tipo de documento:
Artigo