Autophagic vacuolar myopathy

Definition:

Autophagic vacuolar myopathies (AVM) are a group of disorders united by shared histopathological features on muscle biopsy that include the aberrant accumulation of autophagic vacuoles. They are characterized by autophagic vacuoles in which the vacuolar membranes have sarcolemmal features, and include four entities: Danon disease, X-linked myopathy with excessive autophagy (XMEA), infantile AVM, and adult onset AVM with multiorgan involvement. Danon disease has been shown to be associated with mutations in the LAMP2 gene located on the X chromosome. XMEA is characterized by weakness and wasting primarily of the proximal muscles of the lower extremities. Mutations in the VMA21 gene at Xq28 cause XMEA by reducing the activity of lysosomal hydrolases.

References:

[1]. Iulia Munteanu, et al. Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy. Neurology. 2015 Apr 21;84(16):1714-6. [Content Brief]

[2]. J L Holton, et al. Autophagic vacuolar myopathy in twin girls. Neuropathol Appl Neurobiol. 2006 Jun;32(3):253-9. [Content Brief]

[3]. James J Dowling, et al. X-linked myopathy with excessive autophagy: a failure of self-eating. Acta Neuropathol. 2015 Mar;129(3):383-90. [Content Brief]

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