Myofibrillar myopathy: Clinical, morphological and genetic studies in 63 patients

Brain

Volumn 127, Issue 2, 2004, Pages 439-451

  Selcen, Duygu ^a   Ohno, Kinji ^a   Engel, Andrew G ^a  

^a MAYO CLINIC   (United States)

Author keywords

B crystallin; Desmin; Mutation analysis; Myofibrillar myopathy; Z disk

Indexed keywords

ACTIN; ALPHA CRYSTALLIN; AMYLOID BETA PROTEIN; AMYLOID PRECURSOR PROTEIN; BETA CRYSTALLIN; DESMIN; DNA; DYSTROPHIN; MYOTILIN; NERVE CELL ADHESION MOLECULE; PLECTIN; PRION PROTEIN; PROTEIN KINASE; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CELL ULTRASTRUCTURE; CHILD; ELECTRON MICROSCOPY; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; IMMUNOCYTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MUSCLE FIBRIL; MUSCLE WEAKNESS; MYOFIBRILLAR MYOPATHY; MYOPATHY; NERVE CONDUCTION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; AGED, 80 AND OVER; ALPHA-CRYSTALLIN B CHAIN; CHILD; CYTOSKELETAL PROTEINS; DESMIN; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR DISEASES; MUTATION; MYOFIBRILS; NEURAL CONDUCTION;

EID: 0742305818     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/awh052     Document Type: Article

References (68)

1. Amato AA, Kagan-Hallet K, Jackson CE, Lampkin HT, Wolfe GI, Ferrante M, et al. The wide spectrum of myofibrillar myopathy suggests a multifactorial etiology and pathogenesis. Neurology 1998; 51: 1646-55.
2. Asijee GM, Sturk A, Bruin T, Wilkinson JM, Ten Cate JW. Vinculin is a permanent component of the membrane skeleton and is incorporated into the (re)organising cytoskeleton upon platelet activation. Eur J Biochem 1990; 189: 131-6.
3. Bang M-L, Mudry RE, McElhinny AS, Trombitás Trombitás K, Geach AJ, Yamasaki R, et al. Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disk and I-band protein assemblies. J Cell Biol 2001; 153: 413-27.
4. Bellin RM, Sernett SW, Becker B, lp W, Huiatt TW, Robson RM. Molecular characteristics and interactions of the intermediate filament protein synemin. Interactions with alpha-actinin may anchor synemin-containing heterofilaments. J Biol Chem 1999; 274: 29493-9.
5. Bennardini F, Wrzosek A, Chiesi M. βB-crystallin in cardiac tissue. Association with actin and desmin filaments. Circ Res 1992; 71: 288-94.
6. Bornemann A, Schmalbruch H. Desmin and vimentin in regenerating muscles. Muscle Nerve 1992; 15: 14-20.
7. Calderon A, Becker LE, Murphy EG. Subsarcolemmal vermiform deposits in skeletal muscle, associated with familial cardiomyopathy: report of two cases of a new entity. Pediatr Neurosci 1987; 13: 108-12.
8. Cashman NR, Covault J, Wollman RL, Sanes JR. Neural cell adhesion molecule in normal, denervated, and myopathic human muscle. Ann Neurol 1987; 21: 481-9.
9. Clark JR, D'Agostino AN, Wilson J, Brooks RR, Cole GC. Autosomal dominant myofibrillar inclusion body myopathy: clinical, histologic, histochemical, and ultrastructural characteristics [abstract]. Neurology 1978; 28: 399.
10. Clark KA, McElhinny AS, Beckerle MC, Gregorio CC. Striated muscle cytoarchitecture. An intricate web of form and function. Annu Rev Cell Dev Biol 2002; 18: 637-706.
11. Dagvadorj A, Goudeau B, Hilton-Jones D, Blancato JK, Shatunov A, Simon-Casteras M, et al. Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin C-terminal β-helical segment. Muscle Nerve 2003; 27: 669-75.
12. Dalakas MC, Park KY, Semino-Mora C, Lee H-S, Sivakumar K, Goldfarb LG. Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene. N Engl J Med 2000; 342: 770-80.
13. Dalakas MC, Dagvadorj A, Goudeau B, Park K-Y, Takeda K, Simon-Casteras M, et al. Progressive skeletal myopathy, a phenotypic variant of desmin myopathy associated with desmin mutations. Neuromuscul Disord 2003; 13: 252-8.
14. De Bleecker JL, Engel AG, Ertl BB. Myofibrillar myopathy with abnormal foci of desmin positivity. II. Immunocytochemical analysis reveals accumulation of multiple other proteins. J Neuropathol Exp Neurol 1996a; 55: 563-77.
15. De Bleecker JL, Ertl BB, Engel AG. Patterns of abnormal protein expression in target formations and unstructured cores. Neuromuscul Disord 1996b; 6: 339-49.
16. Edström L, Thornell L-E, Eriksson A. A new type of hereditary distal myopathy with characteristic sarcoplasmic bodies and intermediate (skeletin) filaments. J Neurol Sci 1980; 47: 171-90.
17. Edström L, Thornell L-E, Albo J, Landin S, Samuelsson M. Myopathy with respiratory failure and typical myofibrillar lesions. J Neurol Sci 1990; 96: 211-28.
18. Engel AG. The muscle biopsy. In: Engel AG, Franzini-Armstrong C, editors. Myology. 2nd edn. New York: McGraw-Hill; 1994. p. 822-31.
19. Engel AG. Myofibrillar myopathy. Ann Neurol 1999; 46: 681-3.
20. Fardeau M, Godet-Guillain J, Tome FMS, Collin H, Gaudeau S, Boffety C, et al. Une nouvelle affection musculaire familiale, définie par l'accumulation inta-sarcoplasmique d'un materíl granulo-filamentaire dense en microscopie électronique. Rev Neurol (Paris) 1978; 134: 411-25.
21. Faulkner G, Pallavicini A, Formentin E, Comelli A, Ievolella C, Trevisan S, et al. ZASP: a new Z-band alternatively spliced PDZ-motif protein. J Cell Biol 1999; 146: 465-75.
22. Faulkner G, Pallavicini A, Comelli A, Salamon M, Bortoletto G, Ievolella C, et al. FATZ, a filamin-, actinin-, and telethonin-binding protein of the Z-disc of skeletal muscle. J Biol Chem 2000; 275: 41234-42.
23. Faulkner G, Lanfranchi G, Valle G. Telethonin and other new proteins of the Z-disc of skeletal muscle. IUBMB Life 2001; 51: 275-82.
24. Fidzianska A, Goebel HH, Osborn M, Lenard HG, Osse G, Langenbeck U. Mallory body-like inclusions in a hereditary congenital neuromuscular disease. Muscle Nerve 1983; 6: 195-200.
25. Geisler JG, Palmer RJ, Stubbs LJ, Mucenski ML. Nspll, a new Z-band-associated protein. J Muscle Res Cell Motil 1999; 20: 661-8.
26. Goebel HH. Desmin-related myopathies. Curr Opin Neurol 1997; 10: 426-9.
27. Goebel HH, Muller J, Gillen HW, Merritt AD. Autosomal dominant 'spheroid body myopathy'. Muscle Nerve 1978; 1: 14-26.
28. Goldfarb LG, Park KY, Cervenákova L, Gorokhova S, Lee H-S, Vasconcelos O, et al. Missense mutations in desmin associated with familial cardiac and skeletal myopathy. Nature Genet 1998; 19: 402-3.
29. Goudeau B, Dagvadorj A, Rodrigues-Lima F, Nédellec P, Casteras-Simon M, Perret E, et al. Structural and functional analysis of a new desmin variant causing desmin related myopathy. Hum Mutat 2001; 18: 388-96.
30. Hackman P, Vihola A, Haravuori H, Marchand S, Sarparanta J, De Seze J, Labeit S, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 2002; 71: 492-500.
31. Haravuori H, Vihola A, Straub V, Auranen M, Richard I, Marchand S, et al. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology 2001; 56: 869-77.
32. Hauser MA, Horrigan SK, Salmikangas P, Torian UM, Viles KD, Dancel R, et al. Myotilin is mutated in limb girdle muscular dystrophy 1A. Hum Mol Genet 2000; 9: 2141-7.
33. Horowitz SH, Schmalbruch H. Autosomal dominant distal myopathy with desmin storage: a clinicopathologic and electrophysiologic study of a large kinship. Muscle Nerve 1994; 17: 151-60.
34. Howman EV, Sullivan N, Poon EP, Britton JE, Hilton-Jones D, Davies KE, Syncoilin accumulation in two patients with desmin-related myopathy. Neuromuscul Disord 2003; 13: 42-8.
35. Kinoshita M, Satoyoshi E, Suzuki Y. Atypical myopathy with myofibrillar aggregates. Arch Neurol 1975; 32: 417-20.
36. Kozak M. An analysis of 5'-noncoding sequences from 699 vertebrate messenger RNAs. Nucleic Acids Res 1987; 15: 8125-48.
37. Kreienkamp H-J, Sine SM, Maeda RK, Taylor P. Glycosylation sites selectively interfere with β-toxin binding to the nicotinic acetylcholine receptor. J Biol Chem 1994; 269: 8108-14.
38. Labeit S, Kolmerer B, Linke WA. The giant protein titin. Emerging roles in physiology and pathophysiology. Circ Res 1997; 80: 290-4.
39. Melberg A, Oldfors A, Blomström-Lundqvist C, Stalberg E, Carlsson B, Larsson E, et al. Autosomal dominant myofibrillar myopathy with arrythmogenic right ventricular cardiomyopathy linked to chromosome 10q. Ann Neurol 1999; 46: 684-92.
40. Mizuno Y, Thompson TG, Guyon JR, Lidov HGW, Brosius M, Imamura M, et al. Desmuslin, an intermediate filament protein that interacts with β-dystrobrevin and desmin. Proc Natl Acad Sci USA 2001; 98: 6156-61.
41. Moreira ES, Wiltshire TJ, Faulkner G, Nilforoushan A, Vainzof M, Suzuki OT, et al, Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin. Nature Genet 2000; 24: 163-6.
42. Munoz-Mármol AN, Strasser G, Isamat M, Coulombe PA, Yang Y, Roca X, et al. A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci USA 1998; 95: 11312-7.
43. Nakano S, Engel AG, Waclawik AJ, Emslie-Smith AM, Busis NA. Myofibrillar myopathy with abnormal foci of desmin positivity. I. Light and electron microscopy analysis of 10 cases. J Neuropathol Exp Neurol 1996; 55: 549-62.
44. Nakano S, Engel AG, Akiguchi I, Kimura J. Myofibrillar myopathy. III. Abnormal expression of cyclin-dependent kinases and nuclear proteins. J Neuropathol Exp Neurol 1997; 56: 850-6.
45. Nakashima N, Tamura Z, Okamoto S, Goto H. Inclusion bodies in human neuromuscular disorder. Arch Neurol 1970; 22: 270-8.
46. Newey SE, Howman EV, Ponting CP, Benson MA, Nawrotzki R, Loh NY, et al. Syncoilin, a novel member of the intermediate filament superfamily that interacts with β-dystrobrevin in skeletal muscle. J Biol Chem 2001; 276: 6645-55.
47. Nicolao P, Xiang F, Gunnarsson L-G, Giometto B, Edström L, Anvret M, et al. Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. Am J Hum Genet 1999; 64: 788-92.
48. Nowak KJ, Wattanasirichaigoon D, Goebel HH, Wilce M, Pelin K, Donner K, et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nature Genet 1999; 23: 208-12.
49. Park K-Y, Dalakas MC, Goebel HH, Ferrans VJ, Semino-Mora C, Litvak S, et al. Desmin splice variants causing cardiac and skeletal myopathy. J Med Genet 2000; 37: 851-7.
50. Pelin K, Donner K, Holmberg M, Jungbluth H, Muntoni F, Wallgren-Pettersson C. Nebulin mutations in autosomal recessive nemaline myopathy: an update. Neuromuscul Disord 2002; 12: 680-6.
51. Poon E, Howman EV, Newey SE, Davies KE. Association of syncoilin and desmin. Linking intermediate filament proteins to the dystrophin-associated protein complex. J Biol Chem 2002; 277: 3433-9.
52. Salmikangas P, van der Ven PFM, Lalowski M, Taivainen A, Zhao F, Suila H, et al. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly. Hum Mol Genet 2003; 12: 189-203.
53. Sambrook J, Russell DW. Molecular cloning: a laboratory manual. 3rd edn. Cold Spring Harbor (NY): Cold Spring Harbor Laboratory; 2001.
54. Schafer DA, Hug C, Cooper JA. Inhibition of CapZ during myofibrillogenesis alters assembly of actin filaments. J Cell Biol 1995; 128: 61-70.
55. Schröder R, Goudeau B, Simon MC, Fischer D, Eggermann T, Clemen CS, et al. On noxious desmin: functional effects of a novel heterozygous desmin insertion mutation on the extrasarcomeric desmin cytoskeleton and mitochondria. Hum Mol Genet 2003; 12: 657-69.
56. Selcen D, Engel AG. Myofibrillar myopathy caused by novel dominant negative βB-crystallin mutations. Ann Neurol 2003; 54: 804-10.
57. Sjöberg G, Saavedra-Matiz CA, Rosen DR, Wijsman EM, Borg K, Horowitz SH, et al. A missense mutation in the desmin rod domain is associated with autosomal dominant distal myopathy, and exerts a dominant negative effect on filament formation. Hum Mol Genet 1999; 8: 2191-8.
58. Sorimachi H, Freiburg A, Kolmerer B, Ishiura S, Stier G, Gregorio CC, et al. Tissue-specific expression and alpha-actinin binding properties of the Z-disk titin: implications for the nature of vertebrate Z-disks. J Mol Biol 1997; 270: 688-95.
59. Sugawara M, Kato K, Komatsu M, Wada C, Kawamura K, Shindo S, et al. A novel de novo mutation in the desmin gene causes desmin myopathy with toxic aggregates. Neurology 2000; 55: 986-90.
60. Takada F, Vander Woude DL, Tong HQ, Thompson TG, Watkins SC, Kunkel LM, et al. Myozenin: an β-actinin- and γ-filamin-binding protein of skeletal muscle Z lines. Proc Natl Acad Sci USA 2001; 98: 1595-600.
61. Udd B, Kaarianen H, Somer H. Muscular dystrophy with separate clinical phenotypes in a large family. Muscle Nerve 1991; 14: 1050-8.
62. vander Ven PFM, Wiesner S, Salmikangas P, Auerbach D, Himmel M, Kempa S, et al. Indications for a novel muscular dystrophy pathway: γ-filamin, the muscle-specific filamin isoform, interacts with myotilin. J Cell Biol 2000; 151: 235-48.
63. Vicart P, Caron A, Guicheney P, Li Z, Prévost M-C, Faure ACD et al. A missense mutation in the βB-crystallin chaperone gene causes a desmin-related myopathy. Nature Genet 1998; 20: 92-5.
64. Weins A, Schwarz K, Faul C, Barisoni L, Linke WA, Mundel P. Differentiation- and stress-dependent nuclear cytoplasmic redistribution of myopodin, a novel actin-bundling protein. J Cell Biol 2001; 155: 393-403.
65. Wilhelmsen KC, Blake DM, Lynch T, Mabutas J, De Vera M, Neystat M, et al. Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy. Ann Neurol 1996; 39: 507-20.
66. Wolburg H, Schlote W, Langohr HD, Peiffer J, Reiher KH, Heckl RW. Slowly progressive congenital myopathy with cytoplasmic bodies. Report of two cases and a review of the literature. Clin Neuropathol 1982; 1: 55-66.
67. Zhou Q, Ruiz-Lozano P, Martone ME, Chen J. Cypher, a striated muscle-restricted PDZ and LIM domain-containing protein, binds to alpha-actinin-2 and protein kinase C. J Biol Chem 1999; 274: 19807-13.
68. Zhou Q, Chu PH, Huang C, Cheng C-F, Martoni ME, Knoll G, et al. Ablation of Cypher, a PDZ-LIM domain Z-line protein, causes a severe form of congenital myopathy. J Cell Biol 2001; 155: 605-12.