A family with dynamin 2-related centronuclear myopathy without ocular involvement
Journal of Genetic Medicine
; : 51-54, 2016.
Artigo
em Inglês
| WPRIM (Pacífico Ocidental)
| ID: wpr-164780
Biblioteca responsável:
WPRO
ABSTRACT
Centronuclear myopathy (CNM) is a rare congenital myopathy that is pathologically characterized by the centrally locatednuclei in most of the muscle fibers. On clinical examination, dynamin 2 (DNM2)-related CNM typically shows distaldominant muscle atrophy, ptosis, ophthalmoplegia, and contracture. The reported cases of CNM in Caucasian studies showa high prevalence rate of early-onset ptosis and ophthalmoplegia and correlated with the severity of the disease. However,Asian reports show a low prevalence and late-onset ocular symptoms in DNM2-related CNM patients. p.R465W is one ofthe most commonly found mutations in Western countries, and all the cases showed ocular symptoms. The proband and hisdaughter had no ocular symptoms despite harboring the same p.R465W mutation. This family makes us speculate that ocularsymptoms in DNM2-related CNM are influenced by ethnic background. In addition, this is the first familial case of DNM2-related CNM in Korea.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Atrofia Muscular
/
Oftalmoplegia
/
Prevalência
/
Contratura
/
Miopatias Congênitas Estruturais
/
Dinaminas
/
Dinamina II
/
Coreia (Geográfico)
/
Doenças Musculares
Tipo de estudo:
Estudo de prevalência
Limite:
Humanos
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Journal of Genetic Medicine
Ano de publicação:
2016
Tipo de documento:
Artigo