PedAM
Pediatric Disease Annotations & Medicines
| Disease | respiratory failure |
| Phenotype | C0026848|myopathy |
| Sentences | 23 |
| PubMedID- 23620652 | Few cases of respiratory failure in patients with adult-onset nemaline myopathy are reported, but the insidious onset in this case is even more unusual. |
| PubMedID- 20708934 | Hereditary myopathy with early respiratory failure (hmerf) is a rare disorder characterized by severe respiratory involvement at onset, muscle weakness starting in the early adulthood, and cytoplasmic bodies with peculiar immunohistochemical reactivity on muscle biopsy. |
| PubMedID- 25253871 | Background: in hereditary myopathy with early respiratory failure (hmerf), cytoplasmic bodies (cbs) are often localised in subsarcolemmal regions, with necklace-like alignment (necklace cbs), in muscle fibres although their sensitivity and specificity are unknown. |
| PubMedID- 24231549 | Hereditary myopathy with early respiratory failure is caused by mutations in the titin fn3 119 domain. |
| PubMedID- 25500009 | These findings suggest that hereditary myopathy with early respiratory failure is a worldwide distributed disorder and indicate the mutational vulnerability of ttn exon 343 in which de novo mutations could occur on different haplotype backgrounds. |
| PubMedID- 24701242 | The loss of tnnt1 results in a recessive amish nemaline myopathy with lethal respiratory failure. |
| PubMedID- 24636144 | Hereditary myopathy with early respiratory failure is associated with misfolding of the titin fibronectin iii 119 subdomain. |
| PubMedID- 23486992 | Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure. |
| PubMedID- 24444549 | Hereditary myopathy with early respiratory failure is an autosomal dominant myopathy caused by mutations in the 119th fibronectin-3 domain of titin. |
| PubMedID- 24376425 | Kinase domain mutations cause hereditary myopathy with early respiratory failure (hmerf) (lange et al., 2005). |
| PubMedID- 24575448 | Hereditary myopathy with early respiratory failure (hmerf) |
| PubMedID- 23695499 | Think worldwide: hereditary myopathy with early respiratory failure (hmerf) may not be rare. |
| PubMedID- 24291893 | Unexpectedly, hereditary myopathy with early respiratory failure (hmerf) caused by mutation in the a-band region of ttn is the most common cause of mfm in our cohort. |
| PubMedID- 24271327 | (2013) is of great interest because it addresses an important question relating to the genetic aetiology of hereditary myopathy with early respiratory failure (hmerf). |
| PubMedID- 24578547 | Reply: hereditary myopathy with early respiratory failure is caused by mutations in the titin fn3 119 domain. |
| PubMedID- 22577218 | Hereditary myopathy with early respiratory failure and extensive myofibrillar lesions has been described in sporadic and familial cases and linked to various chromosomal regions. |
| PubMedID- 23514108 | Background: hereditary myopathy with early respiratory failure (hmerf) was described in several north european families and recently linked to a titin gene (ttn) mutation. |
| PubMedID- 24879152 | In humans, a mutation in ttn that disrupts its binding to nbr1 causes hereditary myopathy with early respiratory failure (hmerf). |
| PubMedID- 24569025 | Reply: hereditary myopathy with early respiratory failure is caused by mutations in the titin fn3 119 domain. |
| PubMedID- 25377282 | Disorders which have recently had their genetic aetiologies identified include hereditary myopathy with early respiratory failure (due to ttn mutations), the fhl1-related syndromes, and myofibrillar myopathy due to bag3 mutation. |
| PubMedID- 23965408 | According to 2 recent reports, it seems that titin mutations may be an underrecognized cause of myopathy with early respiratory failure in adults. |
| PubMedID- 23620651 | This is the case of autosomal dominant hereditary myopathy with early respiratory failure. |
| PubMedID- 23606733 | Hereditary myopathy with early respiratory failure: occurrence in various populations. |
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