Late adult-onset of X-linked myopathy with excessive autophagy

Muscle and Nerve

Volumn 50, Issue 1, 2014, Pages 138-144

  Crockett, Cameron D ^a   Ruggieri, Alessandra ^b   Gujrati, Meena ^c   Zallek, Christopher M ^d   Ramachandran, Nivetha ^b   Minassian, Berge A ^b   Moore, Steven A ^a  

^a UNIVERSITY OF IOWA   (United States)

^b HOSPITAL FOR SICK CHILDREN   (Canada)

^c UNIVERSITY OF ILLINOIS   (United States)

^d Illinois Neurological Institute   (United States)

Author keywords

Autophagic vacuolar myopathy; Autophagic vacuoles with sarcolemmal features; Progressive proximal muscle weakness; VMA21; X linked myopathy with excessive autophagy

Indexed keywords

AUTOPHAGIC VACUOLAR MYOPATHY; AUTOPHAGIC VACUOLES WITH SARCOLEMMAL FEATURES; PROGRESSIVE PROXIMAL MUSCLE WEAKNESS; VMA21; X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY;

AGED; AUTOPHAGY; BIOPSY; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; ELECTROMYOGRAPHY; EXONS; FLUORESCENT ANTIBODY TECHNIQUE; GENETIC DISEASES, X-LINKED; HUMANS; IMMUNOHISTOCHEMISTRY; INTRONS; MALE; MUSCLE FIBERS, SKELETAL; MUSCLE WEAKNESS; MUSCULAR DISEASES; MUTATION; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 84902544797     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.24197     Document Type: Article

References (24)

1. Murrow L, Debnath J. Autophagy as a stress-response and quality-control mechanism: implications for cell injury and human disease. Annu Rev Pathol 2013;8:105-137.
2. Choi AM, Ryter SW, Levine B. Autophagy in human health and disease. N Engl J Med 2013;368:651-662.
3. Mizushima N, Yamamoto A, Matsui M, Yoshimori T, Ohsumi Y. In vivo analysis of autophagy in response to nutrient starvation using transgenic mice expressing a fluorescent autophagosome marker. Mol Biol Cell 2004;15:1101-1111.
4. Malicdan MC, Nishino I. Autophagy in lysosomal myopathies. Brain Pathol 2012;22:82-88.
5. Sugie K, Noguchi S, Kozuka Y, Arikawa-Hirasawa E, Tanaka M, Yan C, et al. Autophagic vacuoles with sarcolemmal features delineate Danon disease and related myopathies. J Neuropathol Exp Neurol 2005;64:513-522.
6. Nishino I. Autophagic vacuolar myopathy. Semin Pediatr Neurol 2006;13:90-95.
7. Malicdan MC, Noguchi S, Nonaka I, Saftig P, Nishino I. Lysosomal myopathies: an excessive build-up in autophagosomes is too much to handle. Neuromuscul Disord 2008;18:521-529.
8. Nishino I, Fu J, Tanji K, Yamada T, Shimojo S, Koori T, et al. Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease). Nature 2000;406:906-910.
9. Tanaka Y, Guhde G, Suter A, Eskelinen EL, Hartmann D, Lüllmann-Rauch R, et al. Accumulation of autophagic vacuoles and cardiomyopathy in LAMP-2-deficient mice. Nature 2000;406:902-906.
10. Sugie K, Yamamoto A, Murayama K, Oh SJ, Takahashi M, Mora M, et al. Clinicopathological features of genetically confirmed Danon disease. Neurology 2002;58:1773-1778.
11. Echaniz-Laguna A, Mohr M, Epailly E, Nishino I, Charron P, Richard P, et al. Novel LAMP-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease. Muscle Nerve 2006;33:393-397.
12. Maron BJ, Roberts WC, Arad M, Haas TS, Spirito P, Wright GB, et al. Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy. JAMA 2009;301:1253-1259.
13. Kalimo H, Savontaus ML, Lang H, Paljärvi L, Sonninen V, Dean PB, et al. X-linked myopathy with excessive autophagy: a new hereditary muscle disease. Ann Neurol 1988;23:258-265.
14. Chabrol B, Figarella-Branger D, Coquet M, Mancini J, Fontan D, Pedespan JM, et al. X-linked myopathy with excessive autophagy: a clinicopathological study of five new families. Neuromuscul Disord 2001;11:376-388.
15. Ramachandran N, Munteanu I, Wang P, Ruggieri A, Rilstone JJ, Israelian N, et al. VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy. Acta Neuropathol 2013;125:439-457.
16. Villanova M, Louboutin JP, Chateau D, Eymard B, Sagniez M, Tomé FM, et al. X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers. Ann Neurol 1995;37:637-645.
17. Louboutin JP, Villanova M, Lucas-Héron B, Fardeau M. X-linked vacuolated myopathy: membrane attack complex deposition on muscle fiber membranes with calcium accumulation on sarcolemma. Ann Neurol 1997;41:117-120.
18. Saviranta P, Lindlöf M, Lehesjoki AE, Kalimo H, Lang H, Sonninen V, et al. Linkage studies in a new X-linked myopathy, suggesting exclusion of DMD locus and tentative assignment to distal Xq. Am J Hum Genet 1988;42:84-88.
19. Auranen M, Villanova M, Muntoni F, Fardeau M, Scherer SW, Kalimo H, et al. X-linked vacuolar myopathies: two separate loci and refined genetic mapping. Ann Neurol 2000;47:666-669.
20. Villard L, des Portes V, Levy N, Louboutin JP, Recan D, Coquet M, et al. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. Eur J Hum Genet 2000;8:125-129.
21. Munteanu I, Ramachandran N, Mnatzakanian GN, Villanova M, Fardeau M, Levy N, et al. Fine-mapping the gene for X-linked myopathy with excessive autophagy. Neurology 2008;71:951-953.
22. Kurashige T, Takahashi T, Yamazaki Y, Nagano Y, Kondo K, Nakamura T, et al. Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy. Neuromuscul Disord 2013;23:911-916.
23. Kaneda D, Sugie K, Yamamoto A, Matsumoto H, Kato T, Nonaka I, et al. A novel form of autophagic vacuolar myopathy with late-onset and multiorgan involvement. Neurology 2003;61:128-131.
24. Sugimoto S, Shiomi K, Yamamoto A, Nishino I, Nonaka I, Ohi T. LAMP-2 positive vacuolar myopathy with dilated cardiomyopathy. Intern Med 2007;46:757-760.