Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations
Yonsei Medical Journal
;
: 173-179, 2016.
Artigo
em Inglês
| WPRIM
| ID: wpr-186107
ABSTRACT
PURPOSE:
This study was designed to investigate the characteristics of Korean patients with calpainopathy. MATERIALS ANDMETHODS:
Thirteen patients from ten unrelated families were diagnosed with calpainopathy via direct or targeted sequencing of the CAPN3 gene. Clinical, mutational, and pathological spectra were then analyzed.RESULTS:
Nine different mutations, including four novel mutations (NM_000070 c.1524+1G>T, c.1789_1790inA, c.2184+1G>T, and c.2384C>T) were identified. The median age at symptom onset was 22 (interquartile range 15-28). Common clinical findings were joint contracture in nine patients, winged scapula in four, and lordosis in one. However, we also found highly variable clinical features including early onset joint contractures, asymptomatic hyperCKemia, and heterogeneous clinical severity in three members of the same family. Four of nine muscle specimens revealed lobulated fibers, but three showed normal skeletal muscle histology.CONCLUSION:
We identified four novel CAPN3 mutations and demonstrated clinical and pathological heterogeneity in Korean patients with calpainopathy.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Dados de Sequência Molecular
/
Calpaína
/
Testes Genéticos
/
Sequência de Aminoácidos
/
Músculo Esquelético
/
Povo Asiático
/
Distrofia Muscular do Cíngulo dos Membros
/
República da Coreia
/
Proteínas Musculares
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Adolescente
/
Adulto
/
Feminino
/
Humanos
/
Masculino
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Yonsei Medical Journal
Ano de publicação:
2016
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS