A Family of Congenital Fiber Type Disproportion with Mutation in Tropomyosin 3 (TPM3) Gene Presenting as Altered Mentality with Respiratory Distress
Journal of the Korean Neurological Association
;
: 174-177, 2019.
Article
Dans Coréen
| WPRIM
| ID: wpr-766770
ABSTRACT
Congenital fiber type disproportion (CFTD) has been related with mutations in ACTA1, SEPN1, RYR1 and tropomyosin 3 (TPM3) genes. Particularly, TPM3 mutation was identified as one of the most frequent cause of CFTD and was also detected in cap myopathy and nemaline myopathy. Herein we report patients of autosomal dominant TPM3 missense mutations with CFTD in a Korean family over twogenerations. Two of our patients, who developed mild muscle weakness in infancy, presented with altered mentality and respiratory distress despite relatively mild limb weakness.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Insuffisance respiratoire
/
Tropomyosine
/
Myopathies némaline
/
Faiblesse musculaire
/
Canal de libération du calcium du récepteur à la ryanodine
/
Mutation faux-sens
/
Myopathies congénitales structurales
/
Membres
/
Maladies musculaires
Limites du sujet:
Humains
langue:
Coréen
Texte intégral:
Journal of the Korean Neurological Association
Année:
2019
Type:
Article
Documents relatifs à ce sujet
MEDLINE
...
LILACS
LIS