My Orthopaedic Surgeon

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.

Muscular dystrophy (MD) is a collective group of inherited noninflammatory but progressive muscle disorders without a central or peripheral nerve abnormality. The disease affects the muscles with definite fiber degeneration but without evidence of morphologic aberrations.
Synonyms and related keywords: MD, dystrophinopathies, Duchenne muscular dystrophy, Duchenne MD, Becker muscular dystrophy, Becker MD, dystrophin defects, Gower sign, Gower's sign, progressive muscle weakness, proximal muscle weakness, PTC124, PTC-124
Twee Do, MD 2007