Myopathy With Excessive Autophagy (MEAX)

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

Myopathy With Excessive Autophagy (MEAX)
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)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Myopathy With Excessive Autophagy (MEAX)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Myopathy With Excessive Autophagy (MEAX)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Myopathy With Excessive Autophagy (MEAX)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Myopathy With Excessive Autophagy (MEAX)CLIA Kit Customized Service Offer
n/aELISA Kit for Myopathy With Excessive Autophagy (MEAX)ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Myopathy With Excessive Autophagy (MEAX)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Myopathy With Excessive Autophagy (MEAX)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Myopathy With Excessive Autophagy (MEAX)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Myopathy With Excessive Autophagy (MEAX)CLIA Kit Customized Service Offer
n/aELISA Kit for Myopathy With Excessive Autophagy (MEAX)ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO.PRODUCT NAMEAPPLICATIONS
Proteinsn/aRecombinant Myopathy With Excessive Autophagy (MEAX)Recombinant Protein Customized Service Offer
Antibodiesn/aMonoclonal Antibody to Myopathy With Excessive Autophagy (MEAX)Monoclonal Antibody Customized Service Offer
n/aPolyclonal Antibody to Myopathy With Excessive Autophagy (MEAX)Polyclonal Antibody Customized Service Offer
Assay Kitsn/aCLIA Kit for Myopathy With Excessive Autophagy (MEAX)CLIA Kit Customized Service Offer
n/aELISA Kit for Myopathy With Excessive Autophagy (MEAX)ELISA Kit Customized Service Offer
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  2. "The DNA sequence of the human X chromosome." Nature 434:325-337(2005) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "VMA21 deficiency causes an autophagic myopathy by compromising V-ATPase activity and lysosomal acidification." Cell 137:235-246(2009) [PubMed] [Europe PMC] [Abstract]
  5. Erratum Cell 142:984-984(2010) [PubMed] [Europe PMC] [Abstract]
  6. "Initial characterization of the human central proteome."BMC Syst. Biol. 5:17-17(2011) [PubMed] [Europe PMC] [Abstract]