Nemaline myopathy type 6: Clinical and myopathological features

Muscle and Nerve

Volumn 42, Issue 6, 2010, Pages 901-907

  Olivé, Montse ^a   Goldfarb, Lev G ^b   Hee Suk, L E E ^b   Odgerel, Zagaa ^b   Blokhin, Andre ^c   Gonzalez Mera, Laura ^a   Moreno, Dolores ^a   Laing, Nigel G ^d   Sambuughin, Nyamkhishig ^c  

^a HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^b NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^c UNIFORMED SERVICES UNIVERSITY OF THE HEALTH SCIENCES   (United States)

^d UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

Chromosome 15q; Core rod myopathy; NEM6; Nemaline myopathy; Spanish family

Indexed keywords

ADULT; ALLELE; ARTICLE; CASE REPORT; CHROMOSOME 15Q; CLINICAL EXAMINATION; CLINICAL FEATURE; DISTAL MYOPATHY; GENE IDENTIFICATION; GENE MUTATION; GENETIC LINKAGE; GENETIC SCREENING; GENOTYPE; HUMAN; HUMAN TISSUE; MUSCLE BIOPSY; MUSCLE DISEASE; NEMALINE MYOPATHY; PHENOTYPE; PRIORITY JOURNAL;

ADULT; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MYOPATHIES, NEMALINE; PEDIGREE;

EID: 78649640389     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.21788     Document Type: Article

References (30)

1. Shy GM, Engel WK, Somers JE, Wanko T. Nemaline myopathy. A new congenital myopathy. Brain 1963;86:793-810.
2. Nienhuis AW, Coleman RF, Brown WJ, Munsat TL, Pearson CM. Nemaline myopathy. A histopathologic and histochemical study. Am J Clin Pathol 1967;48:1-13.
3. Engel AG, Gomez MR. Nemaline (Z disk) myopathy: observations on the origin, structure, and solubility properties of the nemaline structures. J Neuropathol Exp Neurol 1967;26:601-619.
4. Karpati G, Carpenter S, Andermann F. A new concept of childhood nemaline myopathy. Arch Neurol 1971;24:291-304.
5. North KN, Laing NG, Wallgren-Pettersson C. Nemaline myopathy: current concepts. The ENMC International Consortium on Nemaline Myopathy. J Med Genet 1997;34:705-713.
6. Sanoudou D, Beggs AH. Clinical and genetic heterogeneity in nemaline myopathy - a disease of skeletal muscle thin filaments. Trends Mol Med 2001;7:362-368.
7. Wallgren-Pettersson C, Laing NG. Report of the 70th ENMC International Workshop: Nemaline myopathy, 11-13 June 1999, Naarden, The Netherlands. Neuromuscul Disord 2000;10:299-306.
8. Laing NG, Wilton SD, Akkari PA, Dorosz S, Boundy K, Kneebone C, et al. A mutation in the alphatropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet 1995;9:75-79.
9. Pelin K, Hilpelä P, Donner K, Sewry C, Akkari PA, Wilton SD, et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci USA 1999;96:2305-2310. (Pubitemid 29117910)
10. 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. Nat Genet 1999;23:208-212.
11. North KN, Laing NG. Skeletal alpha-actin diseases. Adv Exp Med Biol 2008;642:15-27.
12. Wallgren-Pettersson C, Rapola J, Donner M. Pathology of congenital nemaline myopathy: a follow-up study. J Neurol Sci 1988;83:243-257. (Pubitemid 18043016)
13. Wallgren-Pettersson C, Kääriäinen H, Rapola J, Salmi T, Jääskeläinen J, Donner M, et al. Genetics of congenital nemaline myopathy: a study of 10 families. J Med Genet 1990;27:480-487.
14. Wallgren-Pettersson C, Jasani B, Newman GR, Morris GE, Jones S, Singhrao S, et al. Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological con.rmation by light and electron microscopy. Neuromuscul Disord 1995;5:93-104.
15. Schröder R, Reimann J, Salmikangas P, Clemen CS, Hayashi YK, Nonaka I, et al. Beyond LGMD 1A: myotilin is a component of central core lesions and nemaline myopathy. Neuromuscul Disord. 2003;13:451-455.
16. Gurgel-Giannetti J, Reed U, Bang ML, Pelin K, Donner K, Marie SK, et al. Nebulin expression in patients with nemaline myopathy. Neuromusc Disord 2001;11:154-162.
17. Ryan MM, Ilkovski B, Strickland CD, Schnell C, Sanoudou D, Midgett C, et al. Clinical course correlates poorly with muscle pathology in nemaline myopathy. Neurology 2003;60:665-673.
18. Agrawal PB, Greenleaf RS, Tomczak KK, Lehtokari VL, Wallgren-Pettersson C, Wallefeld W, et al. Nemaline myopathy with minicores caused by mutation of the CFL2 gene encoding the skeletal muscle actin-binding protein co.lin-2. Am J Hum Genet 2007;80:162-167.
19. Monnier N, Romero NB, Lerale J, Nivoche Y, Qi D, MacLennan DH, et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal muscle ryanodine receptor. Hum Mol Genet 2000;9:2599-2608.
20. Scacheri PC, Hoffman EP, Fratkin JD, Semino-Mora C, Senchak A, Davis MR, et al. A novel ryanodine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology 2000;55:1689-1696.
21. Romero NB, Lehtokari VL, Quijano-Roy S, Monnier N, Claeys KG, Carlier RY, et al. Core-rod myopathy caused by mutations in the nebulin gene. Neurology 2009;73:1159-1161.
22. Gommans IM, van Engelen BG, ter Laak HJ, Brunner HG, Kremer H, Lammens M, et al. A new phenotype of autosomal dominant nemaline myopathy Neuromuscul Disord 2002;12:13-18.
23. Gommans IM, Davis M, Saar K, Lammens M, Mastaglia F, Lamont P, et al. A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions. Brain 2003;126:1545-1551.
24. Clarke NF, Kolski H, Dye DE, Lim E, Smith RL, Patel R, et al. Mutations in TPM3 are a common cause of congenital fiber type disproportion. Ann Neurol 2008;63:329-337.
25. Jungbluth H, Sewry CA, Counsell S, Allsop J, Chattopadhyay A, Mercuri E, et al. Magnetic resonance imaging of muscle in nemaline myopathy. Neuromuscul Disord 2004;14:779-784.
26. Dubowitz V, Sewry CA. Congenital myopathies. In: Muscle biopsy: a practical approach, 3rd ed. London: Saunders Elsevier; 2007. p 407-442.
27. Jungbluth H, Sewry CA, Brown SC, Nowak KJ, Laing NG, Wallgren-Pettersson C, et al. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actinin (ACTA1) gene. Neuromuscul Disord 2001;11:35-40.
28. Oldfors A. Hereditary myosin myopathies. Neuromuscul Disord 2007;17:355-367.
29. Thierfelder L, Watkins H, MacRae C, Lamas R, McKenna W, Vosberg HP, et al. Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere. Cell 1994;77:701-712.
30. Olson TM, Kishimoto NY, Whitby FG, Michels VV. Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy. J Mol Cell Cardiol 2001;33:723-732.