Matches in SemOpenAlex for { <https://semopenalex.org/work/W1933472014> ?p ?o ?g. }
Showing items 1 to 76 of
76
with 100 items per page.
- W1933472014 abstract "OBJECTIVE: To identify the molecular defect of a patient with myalgia and hyperCKemia.BACKGROUND: Anoctamin-5 (ANO5) is a putative intracellular calcium-activated chloride channel. Recessive mutations in the ANO5 gene cause a spectrum of clinical phenotype ranging from limb girdle muscular dystrophy (LGMD 2L) to distal myopathy to asymptomatic hyperCKemia. Amyloid deposition can occur in the muscle interstitium and can provide a clue to the diagnosis of anoctaminopathy, but genetic analysis is necessary for the definite diagnosis.DESIGN/METHODS: Case report.RESULTS: A 49-year-old Arabic male from a consanguineous family presented with five-year history of severe myalgias at rest significantly exacerbated by mild physical activity and after a single episode of unprovoked myoglobinuria. Physical examination revealed no muscle weakness. The CK values ranged from 1,250 to 2,000 U/L; inflammatory and metabolic markers were normal. Nerve conduction, EMG study and cardiac studies were normal. Biopsy of the gastrocnemius demonstrated mixed myopathic and neurogenic features, scattered fibers with rimmed vacuoles and interstitial amyloid deposition; biopsy of the vastus medialis showed slight nonspecific myopathic changes but no amyloid deposits. Immunoreactivity for dysferlin, biochemical assay of muscle glycolytic enzymes and carnitine palmitoyltransferase 2 was normal. Extensive evaluation for systemic amyloidosis was unrevealing. Muscle MRI showed slight increased T2 signal in several lower extremity muscles, especially in the thigh adductor and calf muscles. Analysis of the ANO5 gene by gene-centric array comparative genomic hybridization detected a homozygous deletion of approximatively 11.9 kb encompassing exons 13 to 17.CONCLUSIONS: 1. Anoctaminopathy can manifest with a phenotype reminiscent of metabolic myopathy and should be considered as potential cause of myalgia and hyperCKemia. 2. The presence of amyloid in the muscle interstitium continues to provide a clue to diagnosis of anoctaminopathy, even more in the absence of muscle weakness. 3. A novel homozygous deletion in the ANO5 gene was detected. Disclosure: Dr. Lahoria has nothing to disclose. Dr. Winder has received personal compensation for activities with PreventionGenetics as a geneticist. Dr. Liu has received personal compensation for activities with PreventionGenetics as an employee. Dr. Milone has nothing to disclose." @default.
- W1933472014 created "2016-06-24" @default.
- W1933472014 creator A5045236631 @default.
- W1933472014 creator A5063566935 @default.
- W1933472014 creator A5075451524 @default.
- W1933472014 creator A5085352453 @default.
- W1933472014 date "2014-04-08" @default.
- W1933472014 modified "2023-09-22" @default.
- W1933472014 title "Myalgia and Hyper-CKemia Due to Novel Homozygous ANO5 Deletion (P3.304)" @default.
- W1933472014 hasPublicationYear "2014" @default.
- W1933472014 type Work @default.
- W1933472014 sameAs 1933472014 @default.
- W1933472014 citedByCount "0" @default.
- W1933472014 crossrefType "journal-article" @default.
- W1933472014 hasAuthorship W1933472014A5045236631 @default.
- W1933472014 hasAuthorship W1933472014A5063566935 @default.
- W1933472014 hasAuthorship W1933472014A5075451524 @default.
- W1933472014 hasAuthorship W1933472014A5085352453 @default.
- W1933472014 hasConcept C104317684 @default.
- W1933472014 hasConcept C126322002 @default.
- W1933472014 hasConcept C142724271 @default.
- W1933472014 hasConcept C2775934546 @default.
- W1933472014 hasConcept C2776418732 @default.
- W1933472014 hasConcept C2777300911 @default.
- W1933472014 hasConcept C2778616394 @default.
- W1933472014 hasConcept C2778649560 @default.
- W1933472014 hasConcept C2779030066 @default.
- W1933472014 hasConcept C2779819292 @default.
- W1933472014 hasConcept C2779999465 @default.
- W1933472014 hasConcept C37113945 @default.
- W1933472014 hasConcept C501734568 @default.
- W1933472014 hasConcept C54355233 @default.
- W1933472014 hasConcept C71924100 @default.
- W1933472014 hasConcept C86803240 @default.
- W1933472014 hasConceptScore W1933472014C104317684 @default.
- W1933472014 hasConceptScore W1933472014C126322002 @default.
- W1933472014 hasConceptScore W1933472014C142724271 @default.
- W1933472014 hasConceptScore W1933472014C2775934546 @default.
- W1933472014 hasConceptScore W1933472014C2776418732 @default.
- W1933472014 hasConceptScore W1933472014C2777300911 @default.
- W1933472014 hasConceptScore W1933472014C2778616394 @default.
- W1933472014 hasConceptScore W1933472014C2778649560 @default.
- W1933472014 hasConceptScore W1933472014C2779030066 @default.
- W1933472014 hasConceptScore W1933472014C2779819292 @default.
- W1933472014 hasConceptScore W1933472014C2779999465 @default.
- W1933472014 hasConceptScore W1933472014C37113945 @default.
- W1933472014 hasConceptScore W1933472014C501734568 @default.
- W1933472014 hasConceptScore W1933472014C54355233 @default.
- W1933472014 hasConceptScore W1933472014C71924100 @default.
- W1933472014 hasConceptScore W1933472014C86803240 @default.
- W1933472014 hasOpenAccess W1933472014 @default.
- W1933472014 hasRelatedWork W1207662917 @default.
- W1933472014 hasRelatedWork W1417234501 @default.
- W1933472014 hasRelatedWork W1603624360 @default.
- W1933472014 hasRelatedWork W1972608895 @default.
- W1933472014 hasRelatedWork W1977714675 @default.
- W1933472014 hasRelatedWork W2029759073 @default.
- W1933472014 hasRelatedWork W2034665554 @default.
- W1933472014 hasRelatedWork W2049126442 @default.
- W1933472014 hasRelatedWork W2057457785 @default.
- W1933472014 hasRelatedWork W2079319030 @default.
- W1933472014 hasRelatedWork W2116183723 @default.
- W1933472014 hasRelatedWork W2125878345 @default.
- W1933472014 hasRelatedWork W2414251817 @default.
- W1933472014 hasRelatedWork W2514397184 @default.
- W1933472014 hasRelatedWork W2800997462 @default.
- W1933472014 hasRelatedWork W3031403319 @default.
- W1933472014 hasRelatedWork W3032794431 @default.
- W1933472014 hasRelatedWork W3039432359 @default.
- W1933472014 hasRelatedWork W3089620521 @default.
- W1933472014 hasRelatedWork W3188615746 @default.
- W1933472014 hasVolume "82" @default.
- W1933472014 isParatext "false" @default.
- W1933472014 isRetracted "false" @default.
- W1933472014 magId "1933472014" @default.
- W1933472014 workType "article" @default.