Myopathy With Excessive Autophagy (MEAX)

VMA21; XMEA; Myopathy With Excessive Autophagy; X-linked Myopathy with Excessive Autophagy; Vacuolar ATPase assembly integral membrane protein VMA21

Sugie et al. (2005) classified XMEA as a form of autophagic vacuolar myopathy, characterized by intracytoplasmic autophagic vacuoles with sarcolemmal features.The clinical course was mild; the patients suffered from slowly progressive muscle weakness mainly in the legs, but did not lose their ability to walk. There was no evidence of cardiac or neural involvement. Serum creatine kinase was elevated. By electron microscopy, an excessive number of autophagic vacuoles with staining properties of lysosomes were observed. The granular and membranous material contained in these vacuoles was actively exocytosed. The authors suggested that this disorder differed from the muscular dystrophy of Duchenne and Becker and of Emery-Dreifuss as well as from X-linked myotubular myopathy.

Organism species: Homo sapiens (Human)

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Organism species: Mus musculus (Mouse)

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Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
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n/a Polyclonal Antibody to Myopathy With Excessive Autophagy (MEAX) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Myopathy With Excessive Autophagy (MEAX) CLIA Kit Customized Service Offer
n/a ELISA Kit for Myopathy With Excessive Autophagy (MEAX) ELISA Kit Customized Service Offer