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International Consensus on Differential Diagnosis and Management of Patients With Danon Disease: JACC State-of-the-Art Review.
Hong KN, Eshraghian EA, Arad M, Argirò A, Brambatti M, Bui Q, Caspi O, de Frutos F, Greenberg B, Ho CY, Kaski JP, Olivotto I, Taylor MRG, Yesso A, Garcia-Pavia P, Adler ED. Hong KN, et al. J Am Coll Cardiol. 2023 Oct 17;82(16):1628-1647. doi: 10.1016/j.jacc.2023.08.014. J Am Coll Cardiol. 2023. PMID: 37821174 Free article. Review.
Novel autophagic vacuolar myopathies: Phenotype and genotype features.
Napolitano F, Terracciano C, Bruno G, De Blasiis P, Lombardi L, Gialluisi A, Gianfrancesco F, De Giovanni D, Tummolo A, Di Iorio G, Limongelli G, Esposito T, Melone MAB, Sampaolo S. Napolitano F, et al. Neuropathol Appl Neurobiol. 2021 Aug;47(5):664-678. doi: 10.1111/nan.12690. Epub 2021 Feb 1. Neuropathol Appl Neurobiol. 2021. PMID: 33393119
Differential diagnosis of vacuolar myopathies in the NGS era.
Mair D, Biskup S, Kress W, Abicht A, Brück W, Zechel S, Knop KC, Koenig FB, Tey S, Nikolin S, Eggermann K, Kurth I, Ferbert A, Weis J. Mair D, et al. Brain Pathol. 2020 Sep;30(5):877-896. doi: 10.1111/bpa.12864. Epub 2020 Jun 15. Brain Pathol. 2020. PMID: 32419263 Free PMC article.
In one of these patients with a family history of muscle weakness, the vacuolar myopathy was eventually linked to chloroquine therapy. Our study illustrates the wide phenotypic and genotypic heterogeneity of vacuolar myopathies and validates the role of histo …
In one of these patients with a family history of muscle weakness, the vacuolar myopathy was eventually linked to chloroquine …
Selective screening of late-onset Pompe disease (LOPD) in patients with non-diagnostic muscle biopsies.
Meznaric M, Fumic K, Leonardis L. Meznaric M, et al. J Clin Pathol. 2019 Jul;72(7):468-472. doi: 10.1136/jclinpath-2018-205446. Epub 2019 Mar 16. J Clin Pathol. 2019. PMID: 30878973
Ventilatory insufficiency associated with proximal muscle weakness was found in two patients (2%). No patients exhibited vacuolar myopathy, globular accumulations of glycogen or regions of increased acid phosphatase activity within the sarcoplasm. ...
Ventilatory insufficiency associated with proximal muscle weakness was found in two patients (2%). No patients exhibited vacuolar …
Clinical utility of LC3 and p62 immunohistochemistry in diagnosis of drug-induced autophagic vacuolar myopathies: a case-control study.
Lee HS, Daniels BH, Salas E, Bollen AW, Debnath J, Margeta M. Lee HS, et al. PLoS One. 2012;7(4):e36221. doi: 10.1371/journal.pone.0036221. Epub 2012 Apr 27. PLoS One. 2012. PMID: 22558391 Free PMC article.
BACKGROUND: Some patients treated with chloroquine, hydroxychloroquine, or colchicine develop autophagic vacuolar myopathy, the diagnosis of which currently requires electron microscopy. ...With the diagnostic threshold set between 8% and 15% positive fibers (depend …
BACKGROUND: Some patients treated with chloroquine, hydroxychloroquine, or colchicine develop autophagic vacuolar myopathy, th …
Correlating phenotype and genotype in the periodic paralyses.
Miller TM, Dias da Silva MR, Miller HA, Kwiecinski H, Mendell JR, Tawil R, McManis P, Griggs RC, Angelini C, Servidei S, Petajan J, Dalakas MC, Ranum LP, Fu YH, Ptácek LJ. Miller TM, et al. Neurology. 2004 Nov 9;63(9):1647-55. doi: 10.1212/01.wnl.0000143383.91137.00. Neurology. 2004. PMID: 15534250
This series of 226 patients (127 kindreds) confirms some clinical features of this disorder with notable exceptions: In this series, patients without mutations had a less typical clinical presentation including an older age at onset, no changes in diet as a precipitant, and absen …
This series of 226 patients (127 kindreds) confirms some clinical features of this disorder with notable exceptions: In this series, patient …