Genetic variability and clinical spectrum of chinese patients with limb-girdle muscular dystrophy type 2A
β Scribed by Su-Shan Luo; Jian-Ying Xi; Wen-Hua Zhu; Chong-Bo Zhao; Jia-Hong Lu; Jie Lin; Yin Wang; Jun Lu; Kai Qiao
- Book ID
- 115560393
- Publisher
- John Wiley and Sons
- Year
- 2012
- Tongue
- English
- Weight
- 194 KB
- Volume
- 46
- Category
- Article
- ISSN
- 0148-639X
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We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7 Β± 3.1 years (mean Β± SD), and loss of ambulance occurred at 38.5 Β± 2.1 years. Muscle atrophy was predominant in
## Communicated by Mireille Claustres Limb girdle muscular dystrophies (LGMD) are characterized by genetic and clinical heterogeneity: seven autosomal dominant and 12 autosomal recessive loci have so far been identified. Aims of this study were to evaluate the relative proportion of the different