Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs

@article{Fischer2005DiagnosticVO,
  title={Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs},
  author={Dr. med. Dr. phil. Hubert Fischer and Maggie C. Walter and Kristina Kesper and MS J.A.Petersen and Stefania Aurino and Vincenzo Nigro and Christian Kubisch and Tobias Meindl and Hanns Lochm{\"u}ller and Kristina Wilhelm and Horst Urbach and R. K. Schroeder},
  journal={Journal of Neurology},
  year={2005},
  volume={252},
  pages={538-547}
}
Mutations in the fukutin–related protein (FKRP) have recently been demonstrated to cause limb girdle muscular dystrophy type 2I (LGMD2I), one of the most common forms of the autosomal recessive LGMDs in Europe. We performed a systematic clinical and muscle MRI assessment in 6 LGMD2I patients and compared these findings with those of 14 patients with genetically confirmed diagnosis of other forms of autosomal recessive LGMDs or dystrophinopathies. All LGMD2I patients had a characteristic… CONTINUE READING

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