Cap Myopathy With a Heterozygous TPM3 Missense Mutation
Journal of the Korean Neurological Association
;
: 224-227, 2016.
Artigo
em Coreano
| WPRIM
| ID: wpr-65863
ABSTRACT
Cap myopathy is pathologically characterized by cap structures comprising well-demarcated areas under the sarcolemma and containing deranged myofibrils and scattered Z-disks. Clinically it presents with slowly progressive muscle weakness, myopathic face, and frequent respiratory insufficiency. Four genes have been reported to be associated with the disease TPM2, TPM3, ACTA1, and NEB. Here we describe that a patient presenting with mild limb weakness with facial affection showed cap structures on muscle pathology and carried a heterozygous TPM3 mutation.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Patologia
/
Insuficiência Respiratória
/
Sarcolema
/
Tropomiosina
/
Debilidade Muscular
/
Mutação de Sentido Incorreto
/
Extremidades
/
Doenças Musculares
/
Miofibrilas
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2016
Tipo de documento:
Artigo
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