A family with dynamin 2-related centronuclear myopathy without ocular involvement
Journal of Genetic Medicine
; : 51-54, 2016.
Article
de En
| WPRIM
| ID: wpr-164780
Bibliothèque responsable:
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.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Amyotrophie
/
Ophtalmoplégie
/
Prévalence
/
Contracture
/
Myopathies congénitales structurales
/
Dynamines
/
Dynamine-II
/
Corée
/
Maladies musculaires
Type d'étude:
Prevalence_studies
Limites du sujet:
Humans
Pays comme sujet:
Asia
langue:
En
Texte intégral:
Journal of Genetic Medicine
Année:
2016
Type:
Article