Nebulin mutations in autosomal recessive nemaline myopathy: An update

Neuromuscular Disorders

Volumn 12, Issue 7-8, 2002, Pages 680-686

  Pelin, Katarina ^a   Donner, Kati ^a   Holmberg, Maria ^a   Jungbluth, Heinz ^b   Muntoni, Francesco ^b  

^a UNIVERSITY OF HELSINKI   (Finland)

^b HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

Congenital myopathy; Mutation; Nebulin; Nemaline (rod) myopathy

Indexed keywords

NEBULIN;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; EXON; FAMILY; FRAMESHIFT MUTATION; GENE DELETION; GENE INSERTION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; MISSENSE MUTATION; MUSCLE DEVELOPMENT; NEMALINE MYOPATHY; NUCLEOTIDE SEQUENCE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION; RNA SPLICING; SINGLE NUCLEOTIDE POLYMORPHISM; STOP CODON;

BIOPSY; FRAMESHIFT MUTATION; GENES, RECESSIVE; HUMANS; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUTATION; MYOPATHIES, NEMALINE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 0036788820     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(02)00066-4     Document Type: Article

References (21)

1. Wallgren-Pettersson C., Pelin K., Hilpelä P., et al. Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy. Neuromuscul Disord. 9:1999;564-572.
2. Wallgren-Pettersson C., Laing N.G. Report of the 70th ENMC International Workshop: nemaline myopathy. Neuromuscul Disord. 10:2000;299-306.
3. Pelin K., Hilpelä P., Sewry C., et al. Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci USA. 96:1999;2305-2310.
4. Laing N.G., Wilton S.D., Akkari P.A., et al. A mutation in the alpha-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy NEM1. Nat Genet. 9:1995;75-79.
5. Tan P., Briner J., Boltshauser E., et al. Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy. Neuromuscul Disord. 9:1999;573-579.
6. Donner K., Ollikainen M., Ridanpää M., et al. Mutations in the β-tropomyosin (TPM2) gene - a rare cause of nemaline myopathy. Neuromuscul Disord. 12:2002;151-158.
7. 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. 23:1999;208-212.
8. Ilkovski B., Cooper S.T., Nowak K., et al. Nemaline myopathy caused by mutations in the muscle α-skeletal-actin gene. Am J Hum Genet. 68:2001;1333-1343.
9. Johnston J.J., Kelley R.I., Crawford T.O., et al. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1. Am J Hum Genet. 67:2000;814-821.
10. Young P., Ehler E., Gautel M. Obscurin, a giant sarcomeric Rho guanine nucleotide exchange factor protein involved in sarcomere assembly. J Cell Biol. 154:2001;123-136.
11. Labeit S., Kolmerer B. The complete primary structure of human nebulin and its correlation to muscle structure. J Mol Biol. 248:1995;308-315.
12. Millevoi S., Trombitas K., Kolmerer B., et al. Characterization of nebulette and nebulin and emerging concepts of their roles for vertebrate Z-discs. J Mol Biol. 282:1998;111-123.
13. Pelin K., Labeit S., Wallgren-Pettersson C. Nebulin, human. Encyclopedia of molecular medicine. 2002;2223-2225 Wiley Chichester.
14. Wallgren-Pettersson C., Donner K., Sewry C., Bijlsma E., Lammens M., Bushby K.M., Giovanucci Uzielli M.L., Lapi E., Odent S., Akcoren Z., Topaloǧlu H., Pelin K. Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Neuromuc Disord. 12:2002;674-679.
15. Xiao W., Oefner P.J. Denaturing high performance liquid chromatography: a review. Hum Mutat. 17:2001;439-474.
16. Sewry C.A., Brown S.C., Pelin K., et al. Abnormalities in the expression of nebulin in chromosome-2 linked nemaline myopathy. Neuromuscul Disord. 11:2001;146-153.
17. Gurgel-Giannetti J., Reed U., Bang M.-L., et al. Nebulin expression in patients with nemaline myopathy. Neuromuscul Disord. 11:2001;154-162.
18. Fajkusová L., Lukás Z., TvrdÍková M., Kuhrová V., Hájek J., Fajkus J. Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing suppresses the phenotypic effect of a nonsense mutation. Neuromuscul Disord. 11:2001;133-138.
19. Politou A.S., Millevoi S., Gautel M., Kolmerer B., Pastore A. SH3 in muscles: solution structure of the SH3 domain from nebulin. J Mol Biol. 276:1998;189-202.
20. Ojima K., Lin Z.X., Bang M.-L., et al. Distinct families of Z-line targeting modules in the COOH-terminal region of nebulin. J Cell Biol. 150:2000;553-566.
21. Bang M.-L., Mudry R.E., McElhinny A.S., et al. Myopalladin, a novel 145-kilodalton sarcomeric protein with multiple roles in Z-disc and I-band protein assemblies. J Cell Biol. 153:2001;413-427.