PedAM
Pediatric Disease Annotations & Medicines
| Disease | myopathy |
| Phenotype | C0878544|cardiomyopathy |
| Sentences | 15 |
| PubMedID- 22188717 | A case of nemaline myopathy with associated dilated cardiomyopathy and respiratory failure. |
| 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- 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- 23433712 | Other clinical presentations include myopathy with anemia, cardiomyopathy, tubulopathy and hearing loss with female ovarian dysgenesis. |
| 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- 23056054 | This includes peripheral myopathy with or without cardiomyopathy and neuropathy [5]. |
| PubMedID- 25246303 | This is the first report of a predominantly distal myopathy with hypertrophic cardiomyopathy occurring secondary to an fhl1 mutation. |
| PubMedID- 23826317 | In addition, some of the genes implicated in congenital myopathies belong to the largest genes of the human genome, as ttn (363 exons; mim#188840) mutated in congenital myopathy with fatal cardiomyopathy, neb (183 exons; mim#161650) mutated in nemaline myopathy, or ryr1 (106 exons; mim#180901) mutated in different pathologies. |
| 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- 26333167 | Myofibrillar myopathies represent a group of neuromuscular diseases, generally characterized by a severe myopathy, and associated with cardiomyopathy in 15 to 30% of cases. |
| PubMedID- 25695922 | Two families with myh7 distal myopathy associated with cardiomyopathy and core formations. |
| PubMedID- 23349612 | Emery-dreifuss myopathy can be associated with a cardiomyopathy and cardiac dysrhythmias. |
| 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- 23650303 | Nemaline myopathy with dilated cardiomyopathy in childhood. |
| 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. |
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