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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease myopathy
Comorbidity C1145670|respiratory failure
Sentences 31
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- 24701242 The loss of tnnt1 results in a recessive amish nemaline myopathy with lethal respiratory failure.
PubMedID- 25891278 respiratory failure as presenting symptom of necrotizing autoimmune myopathy with anti-melanoma differentiation-associated gene 5 antibodies.
PubMedID- 23695499 Think worldwide: hereditary myopathy with early respiratory failure (hmerf) may not be rare.
PubMedID- 24879152 In humans, a mutation in ttn that disrupts its binding to nbr1 causes hereditary myopathy with early respiratory failure (hmerf).
PubMedID- 26563514 Can daytime measures of lung function predict respiratory failure in children with neuromuscular disease.
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- 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- 23514108 Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (hmerf) in families of diverse ethnic origins.
PubMedID- 22577218 Hereditary myopathy with early respiratory failure associated with a mutation in a-band titin.
PubMedID- 24444549 This proves that the p.c30071r mutation itself (rather than the haplotype containing this mutation) causes hereditary myopathy with early respiratory failure and suggests its independent origin in different ethnic groups.
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- 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- 24578547 Reply: hereditary myopathy with early respiratory failure is caused by mutations in the titin fn3 119 domain.
PubMedID- 20423363 Background: people with chronic respiratory failure due to neuromuscular diseases have been offered life-long ventilator support at home for more than a decade.
PubMedID- 24575448 Hereditary myopathy with early respiratory failure (hmerf)
PubMedID- 20125073 Respiratory management of acute respiratory failure in neuromuscular diseases.
PubMedID- 23030757 Episodes of acute respiratory failure in neuromuscular diseases are precipitated by respiratory infections.
PubMedID- 23753994 Materials and methods: serum 25-hydroxyvitamin d (25[oh]d) levels along with calcium, serum albumin, and phosphorus levels were obtained from 57 patients with chronic respiratory failure due to underlying neuromuscular diseases.
PubMedID- 23606733 Hereditary myopathy with early respiratory failure: occurrence in various populations.
PubMedID- 21206550 Noninvasive ventilation is widely used for chronic respiratory failure in children with neuromuscular disorders, thus avoiding the need for tracheostomy.
PubMedID- 26236614 We describe a rare cause of acute respiratory failure due to myopathy in a young adult.
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- 24636144 Hereditary myopathy with early respiratory failure is a rare disease with muscle weakness and respiratory failure as early symptoms.
PubMedID- 24569025 Reply: hereditary myopathy with early respiratory failure is caused by mutations in the titin fn3 119 domain.
PubMedID- 23620651 This is the case of autosomal dominant hereditary myopathy with early respiratory failure.
PubMedID- 23486992 Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
PubMedID- 24231549 Hereditary myopathy with early respiratory failure is caused by mutations in the titin fn3 119 domain.
PubMedID- 25253871 Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
PubMedID- 24376425 Kinase domain mutations cause hereditary myopathy with early respiratory failure (hmerf) (lange et al., 2005).
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.

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