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.
Artículo
en Coreano
| 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.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Insuficiencia Respiratoria
/
Tropomiosina
/
Miopatías Nemalínicas
/
Debilidad Muscular
/
Canal Liberador de Calcio Receptor de Rianodina
/
Mutación Missense
/
Miopatías Estructurales Congénitas
/
Extremidades
/
Enfermedades Musculares
Límite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Año:
2019
Tipo del documento:
Artículo
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