Myopathies associated with myosin heavy chain mutations

Acta Myologica

Volumn 23, Issue 2, 2004, Pages 90-96

  Oldfors, Anders ^a   Tajsharghi, H ^a   Darin, N ^a   Lindberg, C ^a  

^a SAHLGRENSKA UNIVERSITY HOSPITAL   (Sweden)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; ADENOSINE TRIPHOSPHATASE; ADENOSINE TRIPHOSPHATE; ALPHA ACTININ; CONNECTIN; CREATINE KINASE; CYTOCHROME C OXIDASE; DESMIN; MYOMESIN; MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN;

ALPHA HELIX; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL DOMINANT MYOPATHY; CELL VACUOLE; CLINICAL FEATURE; FAMILIAL HYPERTROPHIC CARDIOMYOPATHY; FAST MUSCLE FIBER; GENE EXPRESSION; GENE MUTATION; HISTOPATHOLOGY; HUMAN; INCLUSION BODY MYOSITIS; MUSCLE FUNCTION; MUSCLE WEAKNESS; MYOPATHY; MYOSIN STORAGE MYOPATHY; SARCOMERE; SKELETAL MUSCLE; SLOW MUSCLE FIBER;

ANIMALS; EXERCISE; HUMANS; MUSCULAR DISEASES; MUTATION; MYOSIN HEAVY CHAINS;

EID: 9344223966     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (32)

1. Ruppel KM, Spudich JA. Structure-function analysis of the motor domain of myosin. Annu Rev Cell Dev Biol 1996;12:543-73.
2. Rayment I, Holden HM, Whittaker M, et al. Structure of the actin-myosin complex and its implications for muscle contraction. Science 1993;261:58-65.
3. Clark KA, McElhinny AS, Beckerle MC, et al. Striated muscle cytoarchitecture: An intricate web of form and function. Annu Rev Cell Dev Biol 2002;18:637-706.
4. Weiss A, Leinwand LA. The mammalian myosin heavy chain gene family. Annu Rev Cell Dev Biol 1996;12:417-39.
5. Shrager JB, Desjardins PR, Burkman JM, et al. Human skeletal myosin heavy chain genes are tightly linked in the order embryonic-IIa-IId/x-ILb-perinatal- extraocular. J Muscle Res Cell Motil 2000;21:345-55.
6. Smerdu V, Karsch-Mizrachi I, Campione M, et al. Type IIx myosin heavy chain transcripts are expressed in type IIb fibers of human skeletal muscle. Am J Physiol 1994;267:C1723-8.
7. Bonne G, Carrier L, Richard P, et al. Familial hypertrophic cardiomyopathy: from mutations to functional defects. Circ Res 1998;83:580-93.
8. Fananapazir L, Dalakas MC, Cyran F et al. Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci USA 1993;90:3993-7.
9. Darin N, Kyllerman M, Wahlström J, et al. Autosomal dominant myopathy with congenital joint contractures, ophthalmoplegia, and rimmed vacuoles. Ann Neurol 1998;44:242-8.
10. Tajsharghi H, Thomell LE, Darin N, et al. Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age. Neurology 2002;58:780-6.
11. Lindberg C, Borg K, Edström L, et al. Inclusion body myositis and Welander distal myopathy: a clinical, neurophysiological and morphological comparison. J Neurol Sci 1991;103:76-81.
12. Oldfors A, Lindberg C. Inclusion body myositis. In: Sinha KK, Chandra P, editors. Advances in clinical neurosciences. Ranchi: The Catholic Press; 2001. p. 315-33.
13. Askanas V, Engel WK. Sporadic inclusion-body myositis and hereditary inclusion-body myopathies: current concepts of diagnosis and pathogenesis. Curr Opin Rheumatol 1998;10:530-42.
14. Jansson M, Darin N, Kyllerman M, et al. Multiple mitochondrial DNA deletions in hereditary inclusion body myopathy. Acta Neuropathol (Berl) 2000;100:23-8.
15. Martinsson T, Darin N, Kyllerman M, et al. Dominant hereditary inclusion-body myopathy gene (IBM3) maps to chromosome region 17p13.1. Am J Hum Genet 1999;64:1420-6.
16. Martinsson T, Oldfors A, Darin N, et al. Autosomal dominant myopathy: Missense mutation (Glu-706 to Lys) in the myosin heavy chain IIa gene. Proc Natl Acad Sci USA 2000;97:14614-19.
17. Houdusse A, Kalabokis VN, Himmel D, et al. Atomic structure of scallop myosin subfragment S1 complexed with MgADP: a novel conformation of the myosin head. Cell 1999;97:459-70.
18. Cancilla PA, Kalayanaraman K, Verity MA, et al. Familial myopathy with probable lysis of myofibrils in type I fibers. Neurology 1971;21:579-85.
19. Barohn RJ, Brumback RA, Mendell JR. Hyaline body myopathy. Neuromuscul Disord 1994;4:257-62.
20. Masuzugawa S, Kuzuhara S, Narita Y, et al. Autosomal dominant hyaline body myopathy presenting as scapuloperoneal syndrome: clinical features and muscle pathology. Neurology 1997;48:253-7.
21. Bohlega S, Lach B, Meyer BF, et al. Autosomal dominant hyaline body myopathy: clinical variability and pathologic findings. Neurology 2003;61:1519-23.
22. Tajsharghi H, Thornell LE, Lindberg C, et al. Myosin storage myopathy associated with a heterozygous missense mutation in MYH7. Ann Neurol 2003;54:494-500.
23. Sohn RL, Vikstrom KL, Strauss M, et al. A 29 residue region of the sarcomeric myosin rod is necessary for filament formation. J Mol Biol 1997;266:317-30.
24. Bohlega S, Abu-Amero SN, Wakil SM, et al. Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy. Neurology 2004;62:1518-21.
25. Tajsharghi H, Stibrant Sunnerhagen K, Darin N, et al. Induced shift in myosin heavy chain expression in myosin myopathy by endurance training. J Neurol 2004;251:179-83.
26. Weiss A, Schiaffino S, Leinwand LA. Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity. J Mol Biol 1999;290:61-75.
27. Sung SS, Brassington AM, Grannatt K, et al. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet 2003;72:681-90.
28. Acakpo-Satchivi LJ, Edelmann W, Sartorius C, et al. Growth and muscle defects in mice lacking adult myosin heavy chain genes. J Cell Biol 1997;139:1219-29.
29. Larsson L, Moss RL. Maximum velocity of shortening in relation to myosin isoform composition in single fibres from human skeletal muscles. J Physiol 1993;472:595-614.
30. Larsson L, Höök P, Pircher P. Regulation of human muscle contraction at the cellular and molecular levels. Ital J Neurol Sci 1999;20:413-22.
31. Epstein HF, Waterston RH, Brenner S. A mutant affecting the heavy chain of myosin in Caenorhabditis elegans. J Mol Biol 1974;90:291-300.
32. Ruppel KM, Uyeda TQ, Spudich JA. Role of highly conserved lysine 130 of myosin motor domain. In vivo and in vitro characterization of site specifically mutated myosin. J Biol Chem 1994;269:18773-80.