ABSTRACT
A boy with a Becker muscular dystrophy (BMD) phenotype presented unique muscular dystrophin expression. Western blot analysis showed the presence of two dystrophins of different sizes, i.e., a 400-kDa dystrophin and a 500-kDa form. An immunofluorescent study revealed mosaic expression of these dystrophins in the sarcolemma, with matching alpha-sarcoglycan and beta-dystroglycan staining patterns. DNA and RNA analysis did not reveal any mutation in the dystrophin gene, and the karyotype was normal.
Subject(s)
Dystrophin/metabolism , Mosaicism/physiopathology , Muscular Dystrophies/genetics , Muscular Dystrophies/metabolism , Antibodies, Monoclonal/immunology , Blotting, Western , Child, Preschool , Cytoskeletal Proteins/metabolism , Disease Progression , Dystroglycans , Dystrophin/chemistry , Dystrophin/immunology , Fluorescent Antibody Technique , Humans , Male , Membrane Glycoproteins/metabolism , Molecular Weight , Muscular Dystrophies/physiopathology , Reference Values , Sarcoglycans , Sarcolemma/metabolismABSTRACT
A girl born from consanguineous Turkish parents had marked hypotonia from birth and delayed milestones. She was able to stand unaided by 3 years of age with then progressive worsening of motor abilities. She had a severe non-progressive mental deficiency. Epilepsy occurred by 6 years of age. Ophthalmological investigation was normal. A marked white matter high signal was seen on magnetic resonance imaging without cortical dysplasia. Dystrophic changes were seen on muscle biopsy. Two brothers had had a similar history with early death. Muscular immunocytochemical studies showed a normal staining for dystrophin and all dystrophin related glycoproteins (including 43 and 50 DAG). Merosin staining was normal. This case differs from Fukuyama's congenital dystrophy, from merosin negative congenital muscular dystrophy, or from other congenital muscular dystrophy with CNS dysfunction. It underlines the heterogeneity of congenital muscular dystrophy and the non-specific aspect of white matter changes on neuro-imaging.
