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Laminin-alpha2 (merosin), beta-dystroglycan, alpha-sarcoglycan (adhalin), and dystrophin expression in congenital muscular dystrophies: An immunohistochemical study
- Source :
- Clinical Neurology and Neurosurgery, 100, 5-10, Clinical Neurology and Neurosurgery, 100, 1, pp. 5-10
- Publication Year :
- 1998
-
Abstract
- Muscle biopsies of 13 congenital muscular dystrophy (CMD) patients were investigated for the expression of laminin-a2 (merosin), b-dystroglycan, a-sarcoglycan (adhalin) and dystrophin. Expression of these proteins was normal in six out of eight patients with pure-CMD, in three non-Japanese patients clinically resembling Fukuyama-CMD (F-CMD), and in two patients with Walker‐Warburg syndrome (WWS). The two ‘pure’-CMD patients with white matter hypodensity showed severely decreased laminin-a2 expression and normal expression of the other proteins. Our findings in the non-Japanese patients, clinically resembling F-CMD, are different from those in Japanese cases with F-CMD in the literature. Consequently, our patients suffer from WWS or from another yet undetermined form of CMD. © 1998 Elsevier Science B.V. All rights reserved.
- Subjects :
- Male
musculoskeletal diseases
medicine.medical_specialty
Pathology
Inborn errors of metabolism
Basement Membrane
Muscular Dystrophies
Dystrophin
White matter
Laminin
Sarcoglycans
Internal medicine
Biopsy
medicine
Humans
Muscular dystrophy
Child
Dystroglycans
Muscle, Skeletal
Erfelijke stofwisselingsziekten
Membrane Glycoproteins
biology
medicine.diagnostic_test
business.industry
Infant, Newborn
Infant
General Medicine
medicine.disease
Immunohistochemistry
Cytoskeletal Proteins
Study of the immune pathogenesis of polymyositis with the use of an animal model
Sarcoglycan
Endocrinology
medicine.anatomical_structure
Dierexperimenteel onderzoek naar de immunopathogenese van polymyositis
Child, Preschool
Congenital muscular dystrophy
biology.protein
Female
Surgery
Neurology (clinical)
business
Subjects
Details
- ISSN :
- 03038467
- Volume :
- 100
- Database :
- OpenAIRE
- Journal :
- Clinical Neurology and Neurosurgery
- Accession number :
- edsair.doi.dedup.....c220621b89e1e66e2e9035fd3969edb2