Peter B Kang , Chris A Feener , Elicia Estrella , Marielle Thorne , Alexander J White , Basil T Darras , Anthony A Amato and Louis M Kunkel
BMC Musculoskeletal Disorders 2007, 8:115
There is a marked variation in clinical phenotypes that have been associated with mutations in FKRP, ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy type 2I (LGMD2I).
Conclusions These findings raise the possibility that LGMD2I is as common in North America as in Europe. This diagnosis should be considered early in the evaluation of LGMD.