An international consortium of researchers and clinicians has identified thirty patients with an excessively rare autosomal recessive limb girdle muscular dystrophy (LGMD type R6 linked to d-sarcoglycan deficiency).
The clinical and biological data of twenty-three of them were collected and analyzed:
- the results illustrate the benefit of high throughput sequencing techniques for the diagnosis of LGMD in general;
- the evolution of LGMD R6 seems to be faster than the evolution observed in other forms of autosomal recessive LGMD;
- the amount of residual protein visible on muscle sections and / or in Western blotting seems to correlate well with the evolutionary profile of the disease.
