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Objectives: The study was focused on leukoencephalopathies of unknown cause in order to define a novel, homogeneous phenotype… Expand A 10-wk-old infant girl with severe hypertrophy of the septal and atrial walls by cardiac ultrasound, developed progressive… Expand BACKGROUND
Alström syndrome is a recessively inherited genetic disorder characterized by congenital retinal dystrophy that leads… Expand The major goal of this study was to elucidate how troponin T (TnT) dilated cardiomyopathy (DCM) mutations in fetal TnT and fetal… Expand Background — Mutations in the gene G4.5 result in a wide spectrum of severe infantile cardiomyopathic phenotypes, including… Expand We describe a large Acadian kindred including 8 Alstrom Syndrome (AS) patients, with an age range of 4 to 26 at the time of… Expand beta-Oxidation of long-chain fatty acids provides the major source of energy in the heart. Defects in enzymes of the beta… Expand We report a new mutation, a C to T transition at nt 3303 of mtDNA, in seven members of a family with cardiomyopathy and myopathy… Expand An infant with a diagnosis of acute infantile cardiomyopathy was subsequently shown to have mucopolysaccharidosis VI. The… Expand Clinical and pathologic findings are presented in 14 patients (six newly reported, eight described previously), all children… Expand