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 ISSN: 0028-3878 Standard No.: 10.1212/wnl.49.2.579 doi Subjects--Topical Terms: Base SequenceBrain--pathologyCalcium-Binding ProteinsCytoskeletal Proteins--deficiencyDystroglycansDystrophin--geneticsDystrophin-Associated ProteinsFemaleHistocytochemistryHumansImmunohistochemistryInfantLaminin--deficiencyMagnetic Resonance ImagingMembrane Glycoproteins--deficiencyMembrane Proteins--deficiencyMuscle Proteins--deficiencyMuscular Dystrophies--congenitalPhenotypePolymerase Chain ReactionRNA, Messenger--metabolismTranscription, Genetic