A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: Expanding the spectrum of dominant ACTA1 mutations

Neuromuscular Disorders

Volumn 23, Issue 3, 2013, Pages 239-242

  Levesque, L ^a   M R , Del Bigio ^a   Krawitz, S ^a   Mhanni, A A ^a  

^a UNIVERSITY OF MANITOBA   (Canada)

Author keywords

ACTA1; Dominant; Nemaline myopathy

Indexed keywords

ALPHA ACTIN; ACTIN;

ALPHA ACTIN GENE; AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; DYSPHAGIA; FAILURE TO THRIVE; FEEDING DIFFICULTY; FEMALE; FOLLOW UP; GENE MUTATION; GENOTYPE PHENOTYPE CORRELATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; HYPOVENTILATION; HYPOXEMIA; MUSCLE BIOPSY; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NEMALINE MYOPATHY; PHYSIOTHERAPY; POSITIVE END EXPIRATORY PRESSURE; PRIORITY JOURNAL; SPEECH THERAPY; STOMACH FUNDOPLICATION; TOILET TRAINING; GENETIC ASSOCIATION; GENETICS; INFANT; MUTATION; NEWBORN; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; SEVERITY OF ILLNESS INDEX; SKELETAL MUSCLE;

ACTINS; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; INFANT; INFANT, NEWBORN; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, NEMALINE; PHENOTYPE; SEVERITY OF ILLNESS INDEX;

EID: 84881516685     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.12.004     Document Type: Article

References (20)

1. Lammens, M., Moerman, P., Fryns, J.P., et al. Fetal akinesia sequence caused by nemaline myopathy. Neuropediatrics 28:2 (1997), 116–119.
2. Sparrow, J.C., Nowak, K.J., Durling, H.J., et al. Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord 13:7–8 (2003), 519–531.
3. 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 68:6 (2001), 1333–1343.
4. Sambuughin, N., Yau, K.S., Olive, M., et al. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores. Am J Hum Genet 87:6 (2010), 842–847.
5. Wallgren-Pettersson, C., Laing, N.G., Report of the 70th ENMC International Workshop: Nemaline myopathy, 11–13 June 1999, Naarden, The Netherlands. Neuromuscul Disord 10 (2000), 299–306.
6. Agrawal, P.B., Strickland, C.D., Midgett, C., et al. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations. Ann Neurol 56:1 (2004), 86–96.
7. Sheterline, P., Clayton, J., Sparrow, J.C., Actin. 4th ed., 1998, Oxford University Press.
8. Laing, N.G., Dye, D.E., Wallgren-Pettersson, C., et al. Mutations and polymorphisms of the skeletal muscle alpha-actin gene (ACTA1). Hum Mutat 30:9 (2009), 1267–1277.
9. Nowak, K.J., Wattanasirichaigoon, D., Goebel, H.H., et al. Mutations in the skeletal muscle alpha-actin gene in patients with actin myopathy and nemaline myopathy. Nat Genet 23:2 (1999), 208–212.
10. Laing, N.G., Clarke, N.F., Dye, D.E., et al. Actin mutations are one cause of congenital fibre type disproportion. Ann Neurol 56:5 (2004), 689–694.
11. Kaindl, A.M., Rüschendorf, F., Krause, S., et al. Missense mutations of ACTA1 cause dominant congenital myopathy with cores. J Med Genet 1:11 (2004), 842–848.
12. Hung, R., Yoon, G., Hawkins, C., Halliday, W., Biggar, D., Vajsar, J., Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1. Neuromuscul Disord 20:4 (2010), 238–240.
13. Sewry, C.A., Holton, J., Dick, D.J., Jacques, T., Muntoni, F., Hanna, M., Zebra body myopathy resolved. Neuromuscul Disord 19 (2009), 637–638.
14. Feng, J., Marston, S., Genotype–phenotype correlations in ACTA1 mutations that cause congenital myopathies. Neuromuscul Disord 19:1 (2009), 6–16.
15. Ohlsson, M., Tajsharghi, H., Darin, N., Kyllerman, M., Oldfors, A., Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1). Neuromuscul Disord 14:8–9 (2004), 471–475.
16. Ryan, M.M., Schnell, C., Strickland, C.D., et al. Nemaline myopathy: a clinical study of 143 cases. Ann Neurol 50:3 (2001), 312–320.
17. Banwell, B.L., Singh, N.C., Ramsay, D., Prolonged survival in neonatal nemaline rod myopathy. Pediatr Neurol 10:4 (1994), 335–337.
18. Bouldin, A.A., Parisi, M.A., Laing, N., Patterson, K., Gospe, S.M. Jr., Variable presentation of nemaline myopathy: novel mutation of alpha actin gene. Muscle Nerve 35:2 (2007), 254–258.
19. 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. Neuromuscul Disord 14 (2004), 461–470.
20. Domazetovska, A., Ilkovski, B., Kumar, V., et al. Intranuclear rod myopathy: molecular pathogenesis and mechanisms of weakness. Ann Neurol 62:6 (2007), 597–608.