Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene

<div>Pathologic changes in muscle in patients with limb girdle muscular dystrophy type 2I. (a, e, i) Normal control. (b, f, j) Patient 2. (c, g, k) Patient 5. (d, h, l) Patient 8. (a–d) Hematoxylin-eosin staining, HE (×20); (e–h) glycosylated α-DG immunohistochemistry staining (×40); (i–l) laminin α2 immunohistochemistry staining (×40). (b, c, d) Hematoxylin-eosin staining for patients 2, 5, and 8 showed dystrophic changes. (f, g, h) Immunolabeling for glycosylated α-DG in patients 2, 5, and 8 showed decreased α-DG glycosylation. (j, k, l) Immunolabeling showed mildly reduced laminin α2 expression in patients 2, 5, and 8.</div>

BioMed Research International

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Figure 1

Figure 1: Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene

Figure 1 | Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene 