Late onset CMT2A in a Family with an MFN2 Variant: c.2222T>G (p.Leu741Trp).
J Neuromuscul Dis
; 6(2): 259-261, 2019.
Article
em En
| MEDLINE
| ID: mdl-31127728
ABSTRACT
Mutations in MFN2 cause a range of Charcot-Marie-Tooth disease (CMT) phenotypes with different inheritance patterns and underlying pathogenic mechanisms. Recently, a family with a dominantly inherited CMT harboring c.2222T>G (p.Leu741Trp) mutation in MFN2 has been reported for the first time. Here, we report a second family also with a dominantly inherited CMT harboring the same mutation, thereby confirming the pathogenicity of this mutation. Interestingly, the disease onset of this second family is much later than the previously reported cases.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doença de Charcot-Marie-Tooth
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Proteínas Mitocondriais
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GTP Fosfo-Hidrolases
Limite:
Adult
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Female
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Humans
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Male
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Middle aged
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article