Cap disease due to mutation of the beta-tropomyosin gene (TPM2)

Neuromuscular Disorders

Volumn 19, Issue 5, 2009, Pages 348-351

  Clarke, Nigel F ^a   Domazetovska, Ana ^a   Waddell, Leigh ^a   Kornberg, Andrew ^b   McLean, Catriona ^c   North, Kathryn N ^a  

^a CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^b ROYAL CHILDREN'S HOSPITAL   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

Author keywords

Beta tropomyosin; Cap myopathy; Cardiomyopathy; Congenital fibre type disproportion; Congenital myopathy; TPM2; Tropomyosin

Indexed keywords

BETA TROPOMYOSIN; TROPOMYOSIN; UNCLASSIFIED DRUG;

ARTICLE; CAP DISEASE; CHILD; CLINICAL ARTICLE; FEMALE; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; HEART DISEASE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; MUSCLE BIOPSY; MYOPATHY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SCHOOL CHILD; TWO DIMENSIONAL GEL ELECTROPHORESIS; WESTERN BLOTTING;

ADOLESCENT; AMINO ACID SEQUENCE; BASE SEQUENCE; CARDIOMYOPATHIES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; GLUTAMIC ACID; HUMANS; MUSCLE FIBERS, SKELETAL; MUSCLE WEAKNESS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MYOCARDIUM; SARCOMERES; SEQUENCE DELETION; TROPOMYOSIN;

EID: 67349255416     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2009.03.003     Document Type: Article

References (21)

1. Fidzianska A., Badurska B., Ryniewicz B., et al. "Cap disease": new congenital myopathy. Neurology 31 (1981) 1113-1120
2. Fidzianska A. "Cap disease" - a failure in the correct muscle fibre formation. J Neurol Sci 201 (2002) 27-31
3. Lehtokari V.L., Ceuterick-de Groote C., de Jonghe P., et al. Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2. Neuromuscul Disord 17 (2007) 433-442
4. Tajsharghi H., Ohlsson M., Lindberg C., et al. Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2). Arch Neurol 64 (2007) 1334-1338
5. Ohlsson M., Quijano-Roy S., Darin N., et al. New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations. Neurology 71 (2008) 1896-1901
6. Donner K., Ollikainen M., Ridanpaa M., et al. Mutations in the beta-tropomyosin (TPM2) gene - a rare cause of nemaline myopathy. Neuromuscul Disord 12 (2002) 151-158
7. Tajsharghi H., Kimber E., Holmgren D., et al. Distal arthrogryposis and muscle weakness associated with a beta-tropomyosin mutation. Neurology 68 (2007) 772-775
8. Monnier N., Lunardi J., Marty I., et al. Absence of beta-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy. Neuromuscul Disord 19 (2009) 118-123
9. Sung S.S., Brassington A.M., Grannatt K., et al. Mutations in genes encoding fast-twitch contractile proteins cause distal arthrogryposis syndromes. Am J Hum Genet 72 (2003) 681-690
10. Ochala J., Li M., Tajsharghi H., et al. Effects of a R133W beta-tropomyosin mutation on regulation of muscle contraction in single human muscle fibres. J Physiol 581 (2007) 1283-1292
11. Robinson P., Lipscomb S., Preston L.C., et al. Mutations in fast skeletal troponin I, troponin T, and beta-tropomyosin that cause distal arthrogryposis all increase contractile function. FASEB J 21 (2007) 896-905
12. Corbett M.A., Akkari P.A., Domazetovska A., et al. An alphaTropomyosin mutation alters dimer preference in nemaline myopathy. Ann Neurol 57 (2005) 42-49
13. Pieples K., and Wieczorek D.F. Tropomyosin 3 increases striated muscle isoform diversity. Biochemistry 39 (2000) 8291-8297
14. Ilkovski B., Nowak K.J., Domazetovska A., et al. Evidence for a dominant-negative effect in ACTA1 nemaline myopathy caused by abnormal folding, aggregation and altered polymerization of mutant actin isoforms. Hum Mol Genet 13 (2004) 1727-1743
15. Oertel G. Morphometric analysis of normal skeletal muscles in infancy, childhood and adolescence. An autopsy study. J Neurol Sci 88 (1988) 303-313
16. Carvalho Aguiar P.M., and Ozelius L.J. Classification and genetics of dystonia. Lancet Neurol 1 (2002) 316-325
17. Leger J., Bouveret P., Schwartz K., et al. A comparative study of skeletal and cardiac tropomyosins: subunits, thiol group content and biological activities. Pflugers Arch 362 (1976) 271-277
18. Clarke N.F., and North K.N. Congenital fiber type disproportion - 30 years on. J Neuropathol Exp Neurol 62 (2003) 977-989
19. Brandis A., Aronica E., and Goebel H.H. TPM2 mutation. Neuromuscul Disord 18 (2008) 1005 [Letter]
20. Perry S.V. Vertebrate tropomyosin: distribution, properties and function. J Muscle Res Cell Motil 22 (2001) 5-49
21. Brown J.H., Zhou Z., Reshetnikova L., et al. Structure of the mid-region of tropomyosin: bending and binding sites for actin. Proc Natl Acad Sci USA 102 (2005) 18878-18883