Beta sarcoglycanopathy is one of the four forms of limb-girdle myopathy associated with sarcoglycan deficiency. Indian clinicians have just identified an outbreak of this disease in their country:
- 14 patients from 13 unrelated families in southern India (the states of Karnataka, Tamil Nadu and Andra Pradesh) were diagnosed with limb-girdle muscular dystrophy with beta-sarcoglycan deficiency,
- all carried the same c.544T>G mutation (p.Thr182Pro),
- additional haplotyping studies in the 14 patients and 150 healthy subjects, using ten polymorphic markers of the corresponding chromosomal region, confirmed the existence of a highly probable founder effect in the region.
These results could have positive repercussions at a time when gene therapy trials are being set up for this type of limb-girdle muscular dystrophy.
