Four novel mutations of the myelin protein zero gene presenting as a mild and late-onset polyneuropathy.
J Neurol
; 257(11): 1864-8, 2010 Nov.
Article
em En
| MEDLINE
| ID: mdl-20556410
ABSTRACT
Inherited neuropathies caused by mutations of the major structural protein of peripheral myelin, myelin protein zero (MPZ), contribute to 5% of all cases of Charcot-Marie-Tooth disease (CMT). They can be divided into an early-onset neuropathy with symptoms prior to the stage of walking, and a late-onset neuropathy with symptoms at the age of 40 and older. In this study, five patients with four novel MPZ mutations were identified by molecular genetic testing which presented as mild and late-onset neuropathies. We recommend testing for MPZ mutations in patients with a late-onset neuropathy, as late-onset inherited neuropathies might be more frequent than previously thought.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Charcot-Marie-Tooth
/
Proteína P0 da Mielina
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Mutação
Tipo de estudo:
Prognostic_studies
Limite:
Adult
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Aged80
/
Female
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Humans
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Male
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Middle aged
Idioma:
En
Revista:
J Neurol
Ano de publicação:
2010
Tipo de documento:
Article