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cge12366-sup-0001-FigureS1.tifTIFF image324KFig. S1. Moderate to significant increases in creatine kinase (CK) levels of patients were observed before 2 years of age and decreased after 3 years of age, with normal levels observed in some patients aged 6 years and over.
cge12366-sup-0002-FigureS2.tifTIFF image668KFig. S2. Brain MRI. Patient 3 (8 years) who had normal cognition and no seizures. Brain MRI showed symmetrical increases in the white matter signal of the cerebral hemispheres, with no involvement of the genu and splenium of the corpus callosum (a). Patient 39 had a MRI scan at 28 months, 8 years and 10 years (b, c, and d, respectively). Notably, Patient 39 had mental retardation and refractory epilepsy, MRI showed more diffuse white matter abnormalities, predominately in the periventricular and frontal U-fibers without obvious cortical malformation.
cge12366-sup-0003-FigureS3.tifTIFF image2788KFig. S3. Muscle biopsy specimen staining. (a) Normal control. HE staining of patient 36 (b) and patient 20 (c) showed marked connective and fat tissue proliferation, significant variation in the size of the muscle fibers, while necrotic and regenerating fibers were not prominent. Immunohistochemistry staining showed normal laminin-α2 stain (d), partial positivity (e) in patient 36 or negativity (f) in patient 20.
cge12366-sup-0004-TableS1.docWord document35KTable S1. Haplotype analysis of five patients.

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