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.
Tachi, N
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] - Neurology Aug 1997 - 579-83 p. digital
Publication Type: Case Reports; Journal Article
0028-3878
10.1212/wnl.49.2.579 doi
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
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] - Neurology Aug 1997 - 579-83 p. digital
Publication Type: Case Reports; Journal Article
0028-3878
10.1212/wnl.49.2.579 doi
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