eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | distal myopathy |
| Comorbidity | C0878544|cardiomyopathy |
| Sentences | 4 |
| PubMedID- 26342832 | 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. |
| PubMedID- 25246303 | X-linked recessive distal myopathy with hypertrophic cardiomyopathy caused by a novel mutation in the fhl1 gene. |
| PubMedID- 25695922 | Two families with myh7 distal myopathy associated with cardiomyopathy and core formations. |
| PubMedID- 21041087 | Here we describe two siblings with autosomal dominant oculopharyngodistal myopathy apparently associated with dilated cardiomyopathy, which in one case progressed to ventricular hypertrabeculation/non-compaction. |
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