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.
Artigo
em 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Insuficiência Respiratória
/
Tropomiosina
/
Miopatias da Nemalina
/
Debilidade Muscular
/
Canal de Liberação de Cálcio do Receptor de Rianodina
/
Mutação de Sentido Incorreto
/
Miopatias Congênitas Estruturais
/
Extremidades
/
Doenças Musculares
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2019
Tipo de documento:
Artigo
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