Limb-girdle muscular dystrophy type 2A in Brazilian children

Autor(es)

Veloso de Albuquerque, Marco Antonio ^[1] ; Neto, Osorio Abath ^[1] ; Alencar da Silva, Francisco Marcos ^[1] ; Zanoteli, Edmar ^[1] ; Reed, Umbertina Conti ^[1]

Afiliação do(s) autor(es)

^[1] Univ Sao Paulo, Dept Neurol, Sao Paulo, SP - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Arquivos de Neuro-Psiquiatria; v. 73, n. 12, p. 993-997, DEC 2015.
• Citações Web of Science: 5

Resumo

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. (AU)

• Processo FAPESP: 10/08902-5 - Estudo clínico, histológico e molecular de crianças com distrofia muscular congênita por deficiência de lamina A/C e FKRP
• Beneficiário: Umbertina Conti Reed
• Modalidade de apoio: Auxílio à Pesquisa - Regular