PedAM

Pediatric Disease Annotations & Medicines

Disease	myopathy
Phenotype	C1145670\|respiratory failure
Sentences	25
PubMedID- 23620651	This is the case of autosomal dominant hereditary myopathy with early respiratory failure.
PubMedID- 23514108	Hereditary myopathy with early respiratory failure (hmerf) also known as edström myopathy is a disorder manifesting with predominantly proximal muscle weakness of the lower and upper extremities with respiratory insufficiency and involvement of neck flexors early in the disease course [1].
PubMedID- 24575448	Hereditary myopathy with early respiratory failure (hmerf) is a slowly progressive myopathy that typically begins in the third to fifth decades of life.
PubMedID- 20708934	An italian case of hereditary myopathy with early respiratory failure (hmerf) not associated with the titin kinase domain r279w mutation.
PubMedID- 22577218	Hereditary myopathy with early respiratory failure associated with a mutation in a-band titin.
PubMedID- 26236614	We describe a rare cause of acute respiratory failure due to myopathy in a young adult.
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- 24444549	A new disease allele for the p.c30071r mutation in titin causing hereditary myopathy with early respiratory failure.
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- 24879152	In humans, a mutation in ttn that disrupts its binding to nbr1 causes hereditary myopathy with early respiratory failure (hmerf).
PubMedID- 23486992	Titin founder mutation is a common cause of myofibrillar myopathy with early respiratory failure.
PubMedID- 24271327	Reply: hereditary myopathy with early respiratory failure is caused by mutations in the titin fn3 119 domain.
PubMedID- 25891278	respiratory failure as presenting symptom of necrotizing autoimmune myopathy with anti-melanoma differentiation-associated gene 5 antibodies.
PubMedID- 24701242	The loss of tnnt1 results in a recessive amish nemaline myopathy with lethal respiratory failure.
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 associated with misfolding of the titin fibronectin iii 119 subdomain.
PubMedID- 24376425	Kinase domain mutations cause hereditary myopathy with early respiratory failure (hmerf) (lange et al., 2005).
PubMedID- 25253871	Necklace cytoplasmic bodies in hereditary myopathy with early respiratory failure.
PubMedID- 24578547	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- 23695499	Think worldwide: hereditary myopathy with early respiratory failure (hmerf) may not be rare.
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- 23606733	Hereditary myopathy with early respiratory failure: occurrence in various populations.
PubMedID- 24569025	Reply: hereditary myopathy with early respiratory failure is caused by mutations in the titin fn3 119 domain.
PubMedID- 24231549	Hereditary myopathy with early respiratory failure is caused by mutations in the titin fn3 119 domain.

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