| Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
|
0.090 | GeneticVariation | group | BEFREE | Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families. | 29437287 | 2018 | ||||
|
0.090 | GeneticVariation | group | BEFREE | Due to the rarity of these myopathies, if some clinical patterns (such as distal myopathy associated with cardiomyopathy due to desmin mutations) are now well known, surprises remain possible and should lead to systematic testing of the known genes in case of a typical histological presentation. | 26342832 | 2015 | ||||
|
0.090 | GeneticVariation | group | BEFREE | New mutation of the desmin gene identified in an extended Indian pedigree presenting with distal myopathy and cardiac disease. | 24441330 | 2014 | ||||
|
0.090 | GeneticVariation | group | BEFREE | The desmuslin protein interacts with and is closely related to desmin, a protein encoded by a locus mutated in some forms of hereditary distal myopathy. | 11454237 | 2001 | ||||
|
0.090 | GeneticVariation | group | BEFREE | Linkage of hereditary distal myopathy with desmin accumulation to 2q. | 10686494 | 2000 | ||||
|
0.090 | GeneticVariation | group | BEFREE | A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. | 10545598 | 1999 | ||||
|
0.090 | Biomarker | group | BEFREE | Familial cardiomyopathy and distal myopathy with abnormal desmin accumulation and migration. | 9608560 | 1998 | ||||
|
0.090 | GeneticVariation | group | BEFREE | Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. | 8114783 | 1994 | ||||
|
0.090 | Biomarker | group | BEFREE | This family shows a hereditary distal myopathy with some features in common with previously-reported cases in which biopsies showed cytoplasmic inclusion bodies containing desmin. | 7964869 | 1994 |