Deficiency of syntrophin, dystroglycan, and merosin in a female infant with a congenital muscular dystrophy phenotype lacking cysteine-rich and C-terminal domains of dystrophin. [electronic resource]
Producer: 19970917Description: 579-83 p. digitalISSN:- 0028-3878
- Base Sequence
- Brain -- pathology
- Calcium-Binding Proteins
- Cytoskeletal Proteins -- deficiency
- Dystroglycans
- Dystrophin -- genetics
- Dystrophin-Associated Proteins
- Female
- Histocytochemistry
- Humans
- Immunohistochemistry
- Infant
- Laminin -- deficiency
- Magnetic Resonance Imaging
- Membrane Glycoproteins -- deficiency
- Membrane Proteins -- deficiency
- Muscle Proteins -- deficiency
- Muscular Dystrophies -- congenital
- Phenotype
- Polymerase Chain Reaction
- RNA, Messenger -- metabolism
- Transcription, Genetic
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Publication Type: Case Reports; Journal Article
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