Matches in SemOpenAlex for { <https://semopenalex.org/work/W2022739908> ?p ?o ?g. }
Showing items 1 to 82 of
82
with 100 items per page.
- W2022739908 abstract "Abstract Danon disease (DD), X-linked myopathy with excessive autophagy (XMEA), and related autophagic vacuolar myopathies (AVMs) are pathologically characterized by autophagic vacuoles with sarcolemmal features (AVSF). AVSF delineates a group of at least five clinically different myopathies, including DD and XMEA. However, the clinical features and the prevalences of these AVMs have not been well established. We sent questionnaires on these AVMs to 2617 hospitals in Japan that have departments of neurology, cardiology, or pediatrics. We reviewed clinical histories and muscle specimens provided by hospitals with AVM patients. In addition, we performed genetic analyses of the LAMP-2 and VMA21 genes. We identified 27 DD patients from 12 families, 3 XMEA patients from 1 family, 7 X-linked congenital AVM patients from 1 family, 2 infantile AVM patients, and 1 patient with adult-onset AVM with multiorgan involvement. All DD patients had LAMP-2 gene mutations. Lethal cardiomyopathy was evident in all DD patients. Hypertrophic cardiomyopathy (HCM) was documented in most men, while dilated cardiomyopathy was more common among women. All XMEA patients had VMA21 gene mutations. XMEA, infantile AVM, and congenital AVM patients had no cardiomyopathy. HCM developed in the adult with AVM. Pathologically, AVSF in all AVMs expressed virtually all sarcolemmal proteins on their vacuolar membranes. Multilayering of the basal lamina along vacuolar membranes was present in XMEA, infantile AVM, congenital AVM, and adult AVM. In addition, the locus for infantile AVM and congenital AVM was suggested to be the same region as that in XMEA. These AVMs are very rare muscular disorders and may be primarily caused by lysosomal dysfunctions in consideration of both genetically diagnosable DD and XMEA. Because infantile AVM and congenital AVM are pathologically and genetically similar to XMEA, these three diseases might be allelic." @default.
- W2022739908 created "2016-06-24" @default.
- W2022739908 creator A5001477991 @default.
- W2022739908 creator A5006722983 @default.
- W2022739908 creator A5036330211 @default.
- W2022739908 creator A5057885172 @default.
- W2022739908 creator A5057969283 @default.
- W2022739908 creator A5068661720 @default.
- W2022739908 creator A5071478982 @default.
- W2022739908 creator A5074812879 @default.
- W2022739908 date "2012-10-01" @default.
- W2022739908 modified "2023-10-18" @default.
- W2022739908 title "G.P.50 A nationwide survey of autophagic vacuolar myopathies characterized by autophagic vacuoles with sarcolemmal features (AVSF) in Japan" @default.
- W2022739908 doi "https://doi.org/10.1016/j.nmd.2012.06.060" @default.
- W2022739908 hasPublicationYear "2012" @default.
- W2022739908 type Work @default.
- W2022739908 sameAs 2022739908 @default.
- W2022739908 citedByCount "0" @default.
- W2022739908 crossrefType "journal-article" @default.
- W2022739908 hasAuthorship W2022739908A5001477991 @default.
- W2022739908 hasAuthorship W2022739908A5006722983 @default.
- W2022739908 hasAuthorship W2022739908A5036330211 @default.
- W2022739908 hasAuthorship W2022739908A5057885172 @default.
- W2022739908 hasAuthorship W2022739908A5057969283 @default.
- W2022739908 hasAuthorship W2022739908A5068661720 @default.
- W2022739908 hasAuthorship W2022739908A5071478982 @default.
- W2022739908 hasAuthorship W2022739908A5074812879 @default.
- W2022739908 hasConcept C102568950 @default.
- W2022739908 hasConcept C126322002 @default.
- W2022739908 hasConcept C142724271 @default.
- W2022739908 hasConcept C164705383 @default.
- W2022739908 hasConcept C190062978 @default.
- W2022739908 hasConcept C190283241 @default.
- W2022739908 hasConcept C203522944 @default.
- W2022739908 hasConcept C2777300911 @default.
- W2022739908 hasConcept C2778198053 @default.
- W2022739908 hasConcept C2778797674 @default.
- W2022739908 hasConcept C2780185194 @default.
- W2022739908 hasConcept C54355233 @default.
- W2022739908 hasConcept C71924100 @default.
- W2022739908 hasConcept C86803240 @default.
- W2022739908 hasConceptScore W2022739908C102568950 @default.
- W2022739908 hasConceptScore W2022739908C126322002 @default.
- W2022739908 hasConceptScore W2022739908C142724271 @default.
- W2022739908 hasConceptScore W2022739908C164705383 @default.
- W2022739908 hasConceptScore W2022739908C190062978 @default.
- W2022739908 hasConceptScore W2022739908C190283241 @default.
- W2022739908 hasConceptScore W2022739908C203522944 @default.
- W2022739908 hasConceptScore W2022739908C2777300911 @default.
- W2022739908 hasConceptScore W2022739908C2778198053 @default.
- W2022739908 hasConceptScore W2022739908C2778797674 @default.
- W2022739908 hasConceptScore W2022739908C2780185194 @default.
- W2022739908 hasConceptScore W2022739908C54355233 @default.
- W2022739908 hasConceptScore W2022739908C71924100 @default.
- W2022739908 hasConceptScore W2022739908C86803240 @default.
- W2022739908 hasLocation W20227399081 @default.
- W2022739908 hasOpenAccess W2022739908 @default.
- W2022739908 hasPrimaryLocation W20227399081 @default.
- W2022739908 hasRelatedWork W1727390346 @default.
- W2022739908 hasRelatedWork W1893533143 @default.
- W2022739908 hasRelatedWork W1964071888 @default.
- W2022739908 hasRelatedWork W1976786705 @default.
- W2022739908 hasRelatedWork W1984961170 @default.
- W2022739908 hasRelatedWork W2037839226 @default.
- W2022739908 hasRelatedWork W2052025845 @default.
- W2022739908 hasRelatedWork W2060940218 @default.
- W2022739908 hasRelatedWork W2096319356 @default.
- W2022739908 hasRelatedWork W2346504642 @default.
- W2022739908 hasRelatedWork W2529254864 @default.
- W2022739908 hasRelatedWork W2557172549 @default.
- W2022739908 hasRelatedWork W2899875844 @default.
- W2022739908 hasRelatedWork W2977314583 @default.
- W2022739908 hasRelatedWork W3028442883 @default.
- W2022739908 hasRelatedWork W3031116861 @default.
- W2022739908 hasRelatedWork W3084387185 @default.
- W2022739908 hasRelatedWork W3095301246 @default.
- W2022739908 hasRelatedWork W3119422222 @default.
- W2022739908 hasRelatedWork W3189375194 @default.
- W2022739908 isParatext "false" @default.
- W2022739908 isRetracted "false" @default.
- W2022739908 magId "2022739908" @default.
- W2022739908 workType "article" @default.