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Summary
MYOPATHY OR CARDIOMYOPATHY DUE TO DESMIN DEFECT
DESMIN-RELATED MYOPATHY
601419
OMIM = Online Medalian Inheritance of Men
98909
2q35
rare
autosomal dominant
autosomal recessive
mutation in the desmin gene
3 types:
1) distal myopathy, late onset
2) congenital proximal myopathy
3) cardiomyopathy
symptoms
cardiac arrhythmia, dysrhythmia
cardiomyopathy
cardiomyopathy, dilated
cardiomyopathy, hypertrophic
constipation
decreased muscle volume, atrophy or hypoplasia
diarrhea
early death
heart failure
muscle weakness
onset, adulthood
onset, infancy
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
Wolf BBiotinidase deficiency and our champagne legacyGene5892142-1502016
Bode HHet al.Home monitoring of 17-hydroxyprogesterone levels in congenital adrenal hyperplasia with filter paper blood levelsJ Pediatr1340185-1891999
Wolf BBiotinidase deficiency: if you have to have an inherited metabolic disease, this is the one to haveGenet Med146565-5752012
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
Wolf BBiotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision lossMol Genet Metab1163113-1182015