Limb girdle muscular dystrophy type 2I (LGMD2I) is a neuromuscular disease due to mutations in the gene coding for FKRP (one protein sharing similarities with fukutin). The FKRP gene is located in 19q, spans12Kb and 4 exons (a single coding exon). The transcripts are expressed mainly in striated skeletal muscle and the heart. Mutations in the FKRP gene cause a secondary alpha-dystroglycan deficit by lack of dystroglycan glycosylation.

A study of patients attending the Institute of Myology for a series of neuromuscular, EFR, biological, cardiac etc examinations began in June 2004.
The AFM neurologist, Dr E. Hammouda has summarised the preliminary results. This study has shown that out of the first 21 patients carrying two mutations in the FKRP gene, 80% (14) present a deficient form and confirmed cardiac damage. Of these 21 patients, 8 are heterozygous for the L276I mutation. Of the 9 patients presenting a severe form, 6 are heterozygous. Similarly, of the 8 patients presenting a serious deterioration of their respiratory vital capacity (FVC-pp lower than 60%), 6 are heterozygous.
These preliminary results show that a correlation exists between the muscle and respiratory phenotype and the genotype of patients (heterozygous for the L276I mutation).
This prospective study will continue at the Institute of Myology until June 2007.