PMC3959257_01
Brain MRI for patient 1 at 14 years. This mid-sagittal section scan demonstrates a mildly hypoplastic cerebellar vermis, no cerebellar cysts, mild ventriculomegaly and slight prominence of the sulci for age.
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F1
His brain MRI scan showed a mildly hypoplastic cerebellar vermis, no cerebellar cysts, mild ventriculomegaly particularly involving the trigones, mild prominence of the sulci for age, and no definite cortical abnormality (Figure 1).
PMC3959257_02
Histopathology of the muscle biopsy from patient 2. (A) This cryosection H&E from patient 2 shows the classic dystrophic features of myonecrosis, regeneration, and mild endomysial fibrosis. There is increased variation in fiber size. (B and D) Control muscle biopsy immunostained for alpha- and beta-dystroglycan, respectively. (C) The patient's muscle shows greatly reduced staining for alpha-dystroglycan using the glycoepitope-dependent antibody, VIA4-1. Similar, but less dramatically reduced staining of alpha-dystroglycan was seen with the glycoepitope-dependent antibody IIH6. (E) Beta-dystroglycan staining is normal in the patient's biopsy. The photomicrographs in (C) and (E) are from adjacent sections.
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F2
Staining for alpha-dystroglycan using two different glycoepitope antibodies (IIH6 and VIA4-1) ranged from negative to nearly normal; reduced staining with IIH6 was milder than with VIA4-1 (Figure 2 B-E).
PMC3959257_03