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Título: Limb-girdle muscular dystrophy type 2A in Brazilian children
Autor(es): ALBUQUERQUE, Marco Antonio Veloso deNETO, Osorio AbathSILVA, Francisco Marcos Alencar daZANOTELI, EdmarREED, Umbertina Conti
Parte de: ARQUIVOS DE NEURO-PSIQUIATRIA, v.73, n.12, p.993-997, 2015
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.
Aparece nas coleções:

Artigos e Materiais de Revistas Científicas - FM/MNE
Departamento de Neurologia - FM/MNE

Artigos e Materiais de Revistas Científicas - HC/ICHC
Instituto Central - HC/ICHC

Artigos e Materiais de Revistas Científicas - LIM/15
LIM/15 - Laboratório de Investigação em Neurologia

Artigos e Materiais de Revistas Científicas - LIM/45
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica

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