eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | myopathy |
| Comorbidity | C0878544|cardiomyopathy |
| Sentences | 18 |
| PubMedID- 23650303 | Congenital nonprogressive nemaline myopathy is not necessarily a benign disorder: deterioration can occur early in the course of dilated cardiomyopathy with neuromuscular disease, and careful clinical evaluation is therefore necessary. |
| PubMedID- 25695922 | Two families with myh7 distal myopathy associated with cardiomyopathy and core formations. |
| PubMedID- 22918376 | Myosin storage myopathy combined with cardiomyopathy was reported in three siblings homozygous for a missense mutation (e1883k), but with apparently unaffected parents [72]. |
| PubMedID- 25823361 | Aims: duchenne muscular dystrophy (dmd), an inherited x-linked muscular disease, is associated with dilated cardiomyopathy that is responsible for death in 40% of patients. |
| PubMedID- 20445193 | Life-threatening cardiomyopathy is associated with certain systemic myopathies and usually presents as an end-stage progression of the disease. |
| PubMedID- 23349612 | Emery-dreifuss myopathy can be associated with a cardiomyopathy and cardiac dysrhythmias. |
| PubMedID- 23433712 | Other clinical presentations include myopathy with anemia, cardiomyopathy, tubulopathy and hearing loss with female ovarian dysgenesis. |
| 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- 22188717 | A case of nemaline myopathy with associated dilated cardiomyopathy and respiratory failure. |
| PubMedID- 21673914 | However, a missense mutation was found in a four-generation japanese family with left ventricular non-compaction (lvnc) [60], a cardiomyopathy, often associated with neuromuscular disorders [61]. |
| PubMedID- 23045169 | Barth syndrome (bths); mim accession # 302060) is a rare x-linked recessive cardioskeletal mitochondrial myopathy with features of cardiomyopathy, neutropenia, and growth abnormalities. |
| PubMedID- 25246303 | X-linked recessive distal myopathy with hypertrophic cardiomyopathy caused by a novel mutation in the fhl1 gene. |
| PubMedID- 24828896 | These findings have important implications for diagnosis and future investigations of ad-congenital myopathies with cores, without cardiomyopathy, but presenting a particular involvement of distal and quadriceps muscles. |
| PubMedID- 23995275 | Polyglucosan body myopathy with cardiomyopathy has been associated with mutations in rbck1, a ubiquitin ligase, which have also been reported in children with early-onset immune disorder. |
| 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. |
| PubMedID- 25541946 | Mutations in the gene coding for desmin (des) cause skeletal myopathies often combined with cardiomyopathy, or isolated cardiomyopathies. |
| PubMedID- 20133133 | Desmin myopathy with severe cardiomyopathy in a uruguayan family due to a codon deletion in a new location within the desmin 1a rod domain. |
| PubMedID- 22715346 | Studies about myopathies with dilative cardiomyopathy which were associated with stroke are listed in table 2. according to these studies ischemic stroke has been reported in two patients with dmd [16]. |
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