These authors contributed equally to the manuscript.
Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients
Article first published online: 31 MAR 2014
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd
How to Cite
Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients., , , , , , , , , , , , , , , , , .
The authors declare no conflict of interest.
- Article first published online: 31 MAR 2014
- Accepted manuscript online: 25 FEB 2014 06:48AM EST
- Manuscript Revised: 21 FEB 2014
- Manuscript Accepted: 21 FEB 2014
- Manuscript Received: 21 NOV 2013
- National Basic Research Program of China. Grant Number: 2012CB944602
- National Natural Science Foundation of China. Grant Number: 81271400
|cge12366-sup-0001-FigureS1.tif||TIFF image||324K||Fig. 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.tif||TIFF image||668K||Fig. 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.tif||TIFF image||2788K||Fig. 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.doc||Word document||35K||Table S1. Haplotype analysis of five patients.|
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