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Limb-girdle muscular dystrophy type 2A in Brazilian children. | LitMetric

Limb-girdle muscular dystrophy type 2A in Brazilian children.

Arq Neuropsiquiatr

Departamento de Neurologia, Universidade de São Paulo, Sao Paulo, SP, Brazil.

Published: December 2015

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.

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Source
http://dx.doi.org/10.1590/0004-282X20150168DOI Listing

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