Journal article
Limb-girdle muscular dystrophy type 2A in Brazilian children
Arquivos de neuro-psiquiatria, Vol.73(12), pp.993-997
12/2015
DOI: 10.1590/0004-282X20150168
PMID: 26677118
Abstract
Calpainopathy is an autosomal recessive limb girdle muscular dystrophy (LGMD2A) caused by mutations in CAPN3 gene.
To present clinical and histological findings in six children with a molecular diagnosis of LGMD2A and additionally the MRI findings in two of them.
We retrospectively assessed medical records of 6 patients with mutation on CAPN3 gene.
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.
In this cohort of children with LGMD2A, the clinical aspects were similar to adults with the same disorder.
Details
- Title: Subtitle
- Limb-girdle muscular dystrophy type 2A in Brazilian children
- Creators
- Marco Antônio Veloso de Albuquerque - Universidade de São PauloOsório Abath Neto - Universidade de São PauloFrancisco Marcos Alencar da Silva - Universidade de São PauloEdmar Zanoteli - Universidade de São PauloUmbertina Conti Reed - Universidade de São Paulo
- Resource Type
- Journal article
- Publication Details
- Arquivos de neuro-psiquiatria, Vol.73(12), pp.993-997
- DOI
- 10.1590/0004-282X20150168
- PMID
- 26677118
- NLM abbreviation
- Arq Neuropsiquiatr
- ISSN
- 0004-282X
- eISSN
- 1678-4227
- Language
- English
- Date published
- 12/2015
- Academic Unit
- Pathology
- Record Identifier
- 9984277261302771
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