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Summary
MYOPATHY OR CARDIOMYOPATHY DUE TO DESMIN DEFECT
DESMIN-RELATED MYOPATHY
601419
OMIM = Online Medalian Inheritance of Men
2q35
rare autosomal dominant autosomal recessive * 3 types: 1) distal myopathy, late onset 2) congenital proximal myopathy 3) cardiomyopathy
symptoms
cardiac arrhythmia, dysrhythmia
cardiomyopathy
decreased muscle volume, atrophy or hypoplasia
early death
muscle weakness
onset, adult
onset, infant
laboratory finding
Creatine kinase 40.00400.00increasedserum
ECG abnormalities -
Literature
van Kuilenburg ABet al.Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiencyHum Genet10401-91999
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993
Ouahchi Ket al.Ataxia with isolated vitamin E deficiency is caused by mutations in the alpha-tocopherol transfer proteinNature Genet 90141-1451995
Bode HHet al.Home monitoring of 17-hydroxyprogesterone levels in congenital adrenal hyperplasia with filter paper blood levelsJ Pediatr1340185-1891999
Hoffmann GFMeier-Augenstein W, St+Âckler S, Surtees R, Rating D, Nyhan WLPhysiology and Pathophysiology of Organic Acid in Cerebrospinal FluidJ Inherit Metab Dis160648-6691993