Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
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0.080 | GeneticVariation | phenotype | BEFREE | Variants in the desmin gene (DES) are associated with desminopathy; a myofibrillar myopathy mainly characterized by muscle weakness, conduction block, and dilated cardiomyopathy. | 23815709 | 2013 | ||||
|
0.080 | Biomarker | phenotype | BEFREE | Disease associated with mutations in filamin C rod domain leading to expression of a toxic protein presents with progressive proximal muscle weakness and shows focal destructive lesions of polymorphous aggregates containing desmin, myotilin and other proteins in the affected myofibres; these features correspond to the profile of myofibrillar myopathy. | 22961544 | 2012 | ||||
|
0.080 | GeneticVariation | phenotype | BEFREE | Herein is reported an autopsy case of a 57-year-old Japanese man with adult-onset skeletal muscle weakness and atrioventricular (A-V) conducting block, with a missense A337P mutation in exon 5 of the desmin gene. | 17199740 | 2007 | ||||
|
0.080 | GeneticVariation | phenotype | BEFREE | We have previously characterized a de novo desmin R406W mutation in a patient of European origin with early onset muscle weakness in the lower extremities and atrioventricular conduction block requiring a permanent pacemaker. | 14991347 | 2004 | ||||
|
0.080 | Biomarker | phenotype | BEFREE | Desmin ( DES) mutations have been recognized as a cause of desmin-related myopathy (OMIM 601419), or desminopathy, a disease characterized by progressive limb muscle weakness and accumulation of desmin-reactive granular aggregates in the myofibers. | 14648196 | 2004 | ||||
|
0.080 | GeneticVariation | phenotype | BEFREE | Desmin myopathy is a familial or sporadic disorder characterized by the presence of desmin mutations that cause skeletal muscle weakness associated with cardiac conduction block, arrhythmia and heart failure. | 12609507 | 2003 | ||||
|
0.080 | GeneticVariation | phenotype | BEFREE | The present study was conducted to determine structural and functional defects in a pathogenic desmin variant that caused a disabling disorder in an isolated case presenting with distal and proximal limb muscle weakness and cardiomyopathy. | 11668632 | 2001 | ||||
|
0.080 | GeneticVariation | phenotype | BEFREE | The present study was conducted to determine the cause of desmin myopathy in a sporadic patient presenting with symmetrical muscle weakness and atrophy combined with atrioventricular conduction block requiring a permanent pacemaker. | 10905661 | 2000 |