Autophagic vacuoles are a frequent feature in numerous neuromuscular disorders. However, they are also pathognomonic morphologic hallmarks in a slowly emerging new group of conditions called autophagic vacuolar myopathies (AVMs), of which Danon disease, originally called "lysosomal glycogen storage disease with normal acid maltase," is the best known entity. Other such conditions, often although not always described from Japan, are X-linked myopathy with excessive authophagy, infantile autophagic vacuolar myopathy, adult-onset autophagic vacuolar myopathy with multiorgan involvement, and X-linked congenital autophagic vacuolar myopathy. Although only 1 protein, the transmembranous lysosomal protein LAMP-2, has been found mutated in Danon disease, the remaining AVMs are genetically still incompletely identified. Several of these conditions not only share autophagic vacuoles, but such autophagic vacuoles also have morphologic properties of the sarcolemma, thus rendering them autophagic vacuoles with sarcolemmal features, an almost pathognomonic phenomenon of this group of disorders.Related ArticlesAutophagic vacuolar myopathy in twin girls.
Neuropathol Appl Neurobiol. 2006
Autophagic vacuolar myopathy in twin girls.
Holton JL, Beesley C, Jackson M, Venner K, Bhardwaj N, Winchester B, Al-Memar A. Neuropathol Appl Neurobiol. 2006 Jun; 32(3):253-9. [Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies].
Rinsho Shinkeigaku. 2010
[Eludication of pathomechanism of and development of therapy for autophagic vacuolar myopathies].
Nishino I. Rinsho Shinkeigaku. 2010 Jan; 50(1):1-6. Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies.
J Neuropathol Exp Neurol. 2005
Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies.
Sugie K, Noguchi S, Kozuka Y, Arikawa-Hirasawa E, Tanaka M, Yan C, Saftig P, von Figura K, Hirano M, Ueno S, et al. J Neuropathol Exp Neurol. 2005 Jun; 64(6):513-22. Review Autophagic vacuolar myopathies.
Curr Neurol Neurosci Rep. 2003Review
Autophagic vacuolar myopathies.
Nishino I. Curr Neurol Neurosci Rep. 2003 Jan; 3(1):64-9. Review Danon disease as a cause of autophagic vacuolar myopathy.
Congenit Heart Dis. 2007Review
Danon disease as a cause of autophagic vacuolar myopathy.
Yang Z, Vatta M. Congenit Heart Dis. 2007 Nov-Dec; 2(6):404-9. Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.
PLoS One. 2012
Rimmed vacuoles in Becker muscular dystrophy have similar features with inclusion myopathies.
Momma K, Noguchi S, Malicdan MC, Hayashi YK, Minami N, Kamakura K, Nonaka I, Nishino I. PLoS One. 2012; 7(12):e52002. Epub 2012 Dec 14.Minocycline-associated rimmed vacuolar myopathy in a patient with rheumatoid arthritis.
BMC Neurol. 2012
Minocycline-associated rimmed vacuolar myopathy in a patient with rheumatoid arthritis.
Bokuda K, Sugaya K, Tamura S, Miyamoto K, Matsubara S, Komori T. BMC Neurol. 2012 Nov 21; 12:140. Epub 2012 Nov 21.Clinical utility of LC3 and p62 immunohistochemistry in diagnosis of drug-induced autophagic vacuolar myopathies: a case-control study.
PLoS One. 2012
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. PLoS One. 2012; 7(4):e36221. Epub 2012 Apr 27.
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