Myopathy with hexagonally cross-linked crystalloid inclusions: Delineation of a clinico-pathological entity

Neuromuscular Disorders

Volumn 20, Issue 11, 2010, Pages 701-708

  Claeys, Kristl G ^a,b   Pellissier, Jean François ^c   Garcia Bragado, Federico ^d   Weis, Joachim ^b   Urtizberea, Andoni ^e   Poza, Juan Jose ^f   Cobo, Ana Maria ^e   Stoltenburg, Gisela ^g   Figarella Branger, Dominique ^c   Willems, Patrick J ^h   Depuydt, Christophe E ^h   Kleiner, Wolfgang ⁱ   Pouget, Jean ^c   Piraud, Monique ^j   Brochier, Guy ^a   Romero, Norma B ^a,k   Fardeau, Michel ^a,k   Goebel, Hans H ^l   Bönnemann, Carsten G ^m   Voit, Thomas ^a,k   Eymard, Bruno ^a,k   Laforêt, Pascal ^a   more..

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITY HOSPITAL RWTH AACHEN   (Germany)

^c TIMONE HOSPITAL   (France)

^d Universidad Pública de Navarra   (Spain)

^e ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^f HOSPITAL DONOSTIA   (Spain)

^g CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^h Genetic Diagnostics Belgium   (Belgium)

ⁱ Allgemeinmedizin   (Austria)

^j HOSPICES CIVILS DE LYON   (France)

^k SORBONNE UNIVERSITÉ   (France)

^l UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^m UNIVERSITY OF PENNSYLVANIA   (United States)

more..

Author keywords

Caveolin 3; Crystalloid bodies; Exercise intolerance; Exertional myalgia

Indexed keywords

CAVEOLIN 3; PROTEIN ANTIBODY;

ADULT; ARTICLE; CELL ULTRASTRUCTURE; CLINICAL ARTICLE; CLINICAL FEATURE; CROSS LINKING; CRYSTALLOID; DIFFERENTIAL DIAGNOSIS; EXERCISE; FEMALE; GLYCOGENOLYSIS; HISTOPATHOLOGY; HUMAN; IMMUNOREACTIVITY; MALE; MYALGIA; MYOPATHY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; RHABDOMYOLYSIS; STAINING; WEAKNESS;

EID: 77957756486     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.06.006     Document Type: Article

References (34)

1. Rohkamm R., Boxler K., Ricker K., Jerusalem F. A dominantly inherited myopathy with excessive tubular aggregates. Neurology 1983, 33:331-336.
2. Pierobon-Bormioli S., Armani M., Ringel S.P., et al. Familial neuromuscular disease with tubular aggregates. Muscle Nerve 1985, 8:291-298.
3. Cameron S.C.H., Allen I., Patterson V., Avaria M.A. Dominantly inherited tubular aggregate myopathy. J Pathol 1992, 168:397-403.
4. Bendahan D., Pouget J., Pellissier J.F., Figarella-Branger D., Cozzone P.J. Magnetic resonance spectroscopy and histological study of tubular aggregates in a familial myopathy. J Neurol Sci 1996, 139:149-155.
5. Martin J.J., Ceuterick C., Van Goethem G. On a dominantly inherited myopathy with tubular aggregates. Neuromuscular Disord 1997, 7:512-520.
6. Carpenter S., Karpati G., Robitaille Y., Malmed C. Cylindrical spirals in human skeletal muscle. Muscle Nerve 1979, 2:282-287.
7. Bove K.E., Iannaccone S.T., Hilton P.K., Samaha F. Cylindrical spirals in a familial neuromuscular disorder. Ann Neurol 1980, 7:550-556.
8. Taratuto A.L., Matteucci M., Barreiro C., Saccolitti M., Sevlever G. Autosomal dominant neuromuscular disease with cylindrical spirals. Neuromuscular Disord 1991, 1:433-441.
9. Bourque P.R., Lach B., Carpenter S., Rippstein P. Myopathy with hexagonally cross-linked tubular arrays: a new autosomal dominant or sporadic congenital myopathy. Ann Neurol 1999, 45:512-515.
10. Lach B., Tarnopolsky M., Nguyen C. Sarcoplasmic hexagonally cross-linked tubular arrays immunostain for caveolin-3: an excess caveolinopathy?. Acta Neuropathol 2009, 117:339-341.
11. Di Blasi C., Blasevich F., Bellafiore E., et al. Calsequestrin and junction immunoreactivity in hexagonally cross-linked tubular arrays myopathy. Neuromuscular Disord 2010, 20:326-329.
12. Fournier E., Arzel M., Sternberg D., et al. Electromyography guides toward subgroups of mutations in muscle channelopathies. Ann Neurol 2004, 56:650-661.
13. Dubowitz V., Sewry C.A. Muscle biopsy. A practical approach 2007, Saunders Elsevier, London. 3rd ed.
14. Claeys K.G., Fardeau M., Schröder R., et al. Electron microscopy in myofibrillar myopathies reveals clues to the mutated gene. Neuromuscular Disord 2008, 18:656-666.
15. Engel W.K., Bishop D.W., Cunningham G.G. Tubular aggregates in type II muscle fibers: ultrastructural and histochemical correlation. J Ultrastruct Res 1970, 31:507-525.
16. Ilkovski B., Cooper S.T., Nowak K., et al. Nemaline myopathy caused by mutations in the muscle alpha-skeletal actin gene. Am J Hum Genet 2001, 68:1333-1343.
17. Sanoudou D., Beggs A.H. Clinical and genetic heterogeneity in nemaline myopathy - a disease of skeletal muscle thin filaments. Trends Mol Med 2001, 7:362-368.
18. Wallgren-Pettersson C., Pelin K., Nowak K.J., et al. Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin. Neuromuscular Disord 2004, 14:461-470.
19. Jockusch B.M., Veldman H., Griffiths G.W., van Oost B.A., Jennekens F.G. Immunofluorescence microscopy of a myopathy. Alpha-actinin is a major constituent of nemaline rods. Exp Cell Res 1980, 127:409-420.
20. Figarella-Branger D., Putzu G.A., Bouvier-Labit C., et al. Adult onset reducing body myopathy. Neuromuscular Disord 1999, 9:580-586.
21. Schessl J., Taratuto A.L., Sewry C., et al. Clinical, histological and genetic characterization of reducing body myopathy caused by mutations in FHL1. Brain 2009, 132:452-464.
22. Vu T.H., Hays A.P., Tanji K., et al. Myopathy with tubulin-reactive crystalline inclusions. Neurology 2001, 57:149-152.
23. Shelton G.D., Sturges B.K., Lyons L.A., et al. Myopathy with tubulin-reactive inclusions in two cats. Acta Neuropathol 2007, 114:537-542.
24. Schmalbruch H. Kristalloide in menschlichen skelettmuskelfasern. Naturwissenschaften 1967, 54:519.
25. Shafiq S.A., Milhorat A.T., Gorycki M.A. Crystals in muscle fibers in patients with diabetic amyotrophy and neuropathy. Neurology 1968, 18:785-790.
26. Chou S.M., Gutmann L. Picornavirus-like crystals in subacute polymyositis. Neurology 1970, 20:205-213.
27. Oshiro L.S., Cremer N.E., Norris F.H., Lennette E.H. Viruslike particles in muscle from a patient with amyotrophic lateral sclerosis. Neurology 1976, 2:57-60.
28. Fukuyama Y., Ando T., Yokota J. Acute fulminant myoglobinuric polymyositis with picornavirus-like crystals. J Neurol Neurosurg Psychiat 1977, 40:775-781.
29. Palmucci L., Anil A.P., Luh S. Crystalline aggregates of protein-glycogen complexes (alias 'virus-like particles') in skeletal muscle: report of a case and review of the literature. Neuropathol Appl Neurobiol 1983, 9:61-71.
30. Bardosi A., Creutzfeldt W., DiMauro S., et al. Myo-, neuro-, gastrointestinal encephalopathy (MNGIE syndrome) due to partial deficiency of cytochrome-c-oxidase. A new mitochondrial multisystem disorder. Acta Neuropathol 1987, 74:248-258.
31. Ho K.L. Crystalloid bodies in skeletal muscle of hypothyroid myopathy. Ultrastructural and histochemical studies. Acta Neuropathol 1987, 74:22-32.
32. Gazzerro E., Sotgia F., Bruno C., Lisanti M.P., Minetti C. Caveolinpathies: from the biology of caveolin-3 to human diseases. Eur J Hum Genet 2010, 18:137-145.
33. Tang Z., Scherer P.E., Okamoto T., et al. Molecular cloning of caveolin-3, a novel member of the caveolin gene family expressed predominantly in muscle. J Biol Chem 1996, 271:2255-2261.
34. Woodman S.E., Sotgia F., Galbiati F., Minetti C., Lisanti M.P. Caveolinopathies: mutations in caveolin-3 cause four distinct autosomal dominant muscle diseases. Neurology 2004, 62:538-543.