Limb-girdle muscular dystrophy type 2A in Brazilian children.
Arq Neuropsiquiatr
; 73(12): 993-7, 2015 Dec.
Article
em En
| MEDLINE
| ID: mdl-26677118
UNLABELLED: Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene. OBJECTIVE: To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally the MRI findings in two of them. METHOD: We retrospectively assessed medical records of 6 patients with mutation on CAPN3 gene. RESULTS: All patients were female (three to 12 years). The mean of age of disease onset was 9 years. All of them showed progressive weakness with predominance in lower limbs. Other findings were scapular winging, joint contractures and calf hypertrophy. One female had a more severe phenotype than her dizygotic twin sister that was confirmed by muscle MRI. Muscle biopsies showed a dystrophic pattern in all patients. CONCLUSION: In this cohort of children with LGMD2A, the clinical aspects were similar to adults with the same disorder.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofia Muscular do Cíngulo dos Membros
Tipo de estudo:
Observational_studies
Limite:
Child
/
Child, preschool
/
Female
/
Humans
País/Região como assunto:
America do sul
/
Brasil
Idioma:
En
Revista:
Arq Neuropsiquiatr
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Brasil
País de publicação:
Alemanha