Mild Clinical Features and Histopathologically Atypical Cores in Two Korean Families with Central Core Disease Harboring RYR1 Mutations at the C-Terminal Region
Journal of Clinical Neurology
;
: 97-101, 2015.
Artigo
em Inglês
| WPRIM
| ID: wpr-179191
ABSTRACT
BACKGROUND:
Central core disease (CCD) is a congenital myopathy characterized by distinctive cores in muscle fibers. Mutations in the gene encoding ryanodine receptor 1 (RYR1) have been identified in most CCD patients. CASE REPORT Two unrelated patients presented with slowly progressive or nonprogressive proximal muscle weakness since childhood. Their family history revealed some members with the same clinical problem. Histological analysis of muscle biopsy samples revealed numerous peripheral cores in the muscle fibers. RYR1 sequence analysis disclosed a novel mutation in exon 101 (c.14590T>C) and confirmed a previously reported mutation in exon 102 (c.14678G>A).CONCLUSIONS:
We report herein two families with CCD in whom missense mutations at the C-terminal of RYR1 were identified. Although it has been accepted that such mutations are usually associated with a severe clinical phenotype and clearly demarcated central cores, our patients exhibited a mild clinical phenotype without facial muscle involvement and skeletal deformities, and atypical cores in their muscle biopsy specimens.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Anormalidades Congênitas
/
Biópsia
/
Éxons
/
Análise de Sequência
/
Debilidade Muscular
/
Canal de Liberação de Cálcio do Receptor de Rianodina
/
Mutação de Sentido Incorreto
/
Miopatia da Parte Central
/
Músculos Faciais
Tipo de estudo:
Estudo prognóstico
Limite:
Humanos
Idioma:
Inglês
Revista:
Journal of Clinical Neurology
Ano de publicação:
2015
Tipo de documento:
Artigo
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