title: Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs.
abstract: 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 clinical phenotype with predominant weakness of hip flexion and adduction, knee flexion and ankle dorsiflexion. These findings were also mirrored on MRI of the lower extremities which demonstrated marked signal changes in the adductor muscles, the posterior thigh and posterior calf muscles. This characteristic clinical and MRI phenotype was also seen in LGMD2A. However, in LGMD2A there was a selective involvement of the medial gastrocnemius and soleus muscle in the lower legs which was not seen in LGMD2I. The pattern in LGMD2A and LGMD2I were clearly different from the one seen in alpha-sarcoglycanopathy and dystrophinopathy type Becker which showed marked signal abnormalities in the anterior thigh muscles. Our results indicate that muscular MRI is a powerful tool for differentiating LGMD2I from other forms of autosomal recessive LGMDs and dystrophinopathies.
authors.affiliation: Dept. of Neurology, University of Bonn, Sigmund-Freud-Str. 25, 53105 Bonn, Germany. dirk.fischer@mailer.meb.uni-bonn.de
authors.forename: Dirk
authors.initials: D
authors.lastname: Fischer
authors.forename: Maggie C
authors.initials: MC
authors.lastname: Walter
authors.forename: Kristina
authors.initials: K
authors.lastname: Kesper
authors.forename: Jens A
authors.initials: JA
authors.lastname: Petersen
authors.forename: Stefania
authors.initials: S
authors.lastname: Aurino
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Nigro
authors.forename: Christian
authors.initials: C
authors.lastname: Kubisch
authors.forename: Thomas
authors.initials: T
authors.lastname: Meindl
authors.forename: Hanns
authors.initials: H
authors.lastname: Lochmüller
authors.forename: Kai
authors.initials: K
authors.lastname: Wilhelm
authors.forename: Horst
authors.initials: H
authors.lastname: Urbach
authors.forename: Rolf
authors.initials: R
authors.lastname: Schröder
mesh_terms: D000293:Adolescent; D000328:Adult; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging / Q000379:methods*; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology*; D049288:Muscular Dystrophies, Limb-Girdle / Q000145:classification* / Q000175:diagnosis* / Q000235:genetics
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