Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation.
Neurology
; 54(8): 1696-8, 2000 Apr 25.
Article
em En
| MEDLINE
| ID: mdl-10762521
ABSTRACT
Mutations in the gene coding for the Schwann cell transcription factor early growth response 2 (EGR2), which seems to regulate myelinogenesis and hindbrain development, have been observed in few cases of inherited neuropathy. The authors describe a unique combination of cranial nerve deficits in one member of a Charcot-Marie-Tooth 1 family carrying an EGR2 mutation (Arg381His). This finding further supports the role of EGR2 in cranial nerve development.
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Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
/
Doença de Charcot-Marie-Tooth
/
Mutação de Sentido Incorreto
/
Doenças dos Nervos Cranianos
/
Proteínas de Ligação a DNA
Tipo de estudo:
Etiology_studies
Limite:
Adult
/
Aged
/
Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2000
Tipo de documento:
Article