Novel DYSF mutations in Thai patients with distal myopathy

Clinical Neurology and Neurosurgery

Volumn 111, Issue 7, 2009, Pages 613-618

  Liewluck, Teerin ^a,b   Pongpakdee, Sunsanee ^c   Witoonpanich, Rawiphan ^d   Sangruchi, Tumtip ^a,b   Pho iam, Theeraphong ^b   Limwongse, Chanin ^a,b   Thongnoppakhun, Wanna ^a   Boonyapisit, Kanokwan ^a,b   Sopassathit, Varisa ^c   Phudhichareonrat, Suchart ^e   Suthiponpaisan, Udom ^f   Raksadawan, Natte ^g   Goto, Kanako ^g   Hayashi, Yukiko K ^h   Nishino, Ichizo ^h  

^a MAHIDOL UNIVERSITY   (Thailand)

^b Department of Research and Development ^*  (Thailand)

^c BHUMIBOL ADULYADEJ HOSPITAL   (Thailand)

^d THAMMASAT UNIVERSITY   (Thailand)

^e PRASAT NEUROLOGICAL INSTITUTE   (Thailand)

^f Somdej Prapinklao Hospital   (Thailand)

^g Bangkok Neuroscience Center   (Thailand)

^h NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Distal myopathy with anterior tibial onset; Dysferlinopathy; LGMD2B; Miyoshi myopathy; Ring fiber

Indexed keywords

ARGININE; DYSFERLIN; GLUTAMINE; TYROSINE;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONTROLLED STUDY; DISTAL MYOPATHY; DISTAL MYOPATHY WITH ANTERIOR TIBIAL ONSET; DYSF GENE; DYSFERLINOPATHY; FEMALE; GENE; GENE MUTATION; HETEROZYGOSITY; HISPANIC; HUMAN; HUMAN TISSUE; HYPERCKEMIA; LIMB GIRDLE MUSCULAR DYSTROPHY; LIMB GIRDLE MUSCULAR DYSTROPHY TYPE 2B; MALE; MISSENSE MUTATION; MIYOSHI MYOPATHY; MUSCLE BIOPSY; MUSCULAR DYSTROPHY; RIGID SPINE SYNDROME; THAILAND;

ADULT; BLOTTING, WESTERN; CREATINE KINASE; DISTAL MYOPATHIES; EXONS; FAMILY; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; INTRONS; MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE STRENGTH; MUSCLE, SKELETAL; MUTATION; POLYMORPHISM, GENETIC; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; THAILAND; YOUNG ADULT;

EID: 67650573174     PISSN: 03038467     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.clineuro.2009.05.001     Document Type: Article

References (28)

1. Aoki M., Liu J., Richard I., Bashir R., Britton S., Keers S.M., et al. Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology 57 (2001) 271-278
2. Bansal D., Miyake K., Vogel S.S., Groh S., Chen C.C., Williamson R., et al. Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 423 (2003) 168-172
3. Illa I., Serrano-Munuera C., Gallardo E., Lasa A., Rojas-Garcia R., Palmer J., et al. Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 49 (2001) 130-134
4. Nagashima T., Chuma T., Mano Y., Goto Y., Hayashi Y.K., Minami N., et al. Dysferlinopathy associated with rigid spine syndrome. Neuropathology 24 (2004) 341-346
5. Nguyen K., Bassez G., Bernard R., Krahn M., Labelle V., Figarella-Branger D., et al. Dysferlin mutations in LGMD2B, Miyoshi myopathy and atypical dysferlinopathies. Hum Mutat 26 (2005) 165-175
6. Nguyen K., Bassez G., Krahn M., Bernard R., Laforet P., Labelle V., et al. Phenotypic study in 40 patients with dysferlin gene mutations: high frequency of atypical phenotypes. Arch Neurol 64 (2007) 1176-1182
7. Klinge L., Dean A.F., Kress W., Dixon P., Charlton R., Muller J.S., et al. Late onset in dysferlinopathy widens the clinical spectrums. Neuromuscul Disord 18 (2008) 288-290
8. Paradas C., Gonzalez-Quereda L., De Luna N., Gallardo E., Garcia-Consuegra I., Gomez H., et al. A new phenotype of dysferlinopathy with congenital onset. Neuromuscul Disord 19 (2009) 21-25
9. Sangruchi T., and Liewluck T. Myopathology, a 14-year Siriraj experience: what have we learned?. Siriraj Hosp Gaz 55 (2003) 368-380
10. Tagawa K., Ogawa M., Kawabe K., Yamanaka G., Matsumura T., Goto K., et al. Protein and gene analyses of dysferlinopathy in a large group of Japanese muscular dystrophy patients. J Neurol Sci 211 (2003) 23-28
11. Gort L., Coll M.J., and Chabas A. Identification of 12 novel mutations and two new polymorphisms in the arysulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. Hum Mutat 14 (1999) 240-248
12. Liewluck T., Pho-iam T., Limwongse C., Boonyapisit K., Murayama K., Hayashi Y.K., et al. Distal myopathies in Thailand. Neuromuscul Disord 16 (2006) 674-675 Abstract
13. Udd B. Molecular biology of distal muscular dystrophies-sarcomeric proteins on top. Biochim Biophys Acta 1772 (2007) 145-158
14. Fanin M., and Angelini C. Muscle pathology in dysferlin deficiency. Neuropathol Appl Neurobiol 28 (2002) 461-470
15. Gallardo E., Rojas-García R., de Luna N., Pou A., Brown Jr. R.H., and Illa I. Inflammation in dysferlin myopathy: immunohistochemical characterization of 13 patients. Neurology 57 (2001) 2136-2138
16. Campanaro S., Romualdi C., Fanin M., Celegato B., Pacchioni B., Trevisan S., et al. Gene expression profiling in dysferlinopathies using a dedicated muscle microarray. Hum Mol Genet 11 (2002) 3283-3298
17. Selcen D., Stilling G., and Engel A.G. The earliest pathologic alterations in dysferlinopathy. Neurology 56 (2001) 1472-1481
18. Del Bigio M.R., and Jay V. Inclusion body myositis with abundant ring fibers. Acta neuropathol 85 (1992) 105-110
19. Fidziańska A., and Kamińska A. Congenital myopathy with abundant ring fibres, rimmed vacuoles and inclusion body myositis-type inclusions. Neuropediatrics 34 (2003) 40-44
20. Sawicka E. Origin of the ring muscle fibers in neuromuscular diseases. Neuropatol Pol 29 (1991) 29-40
21. Schotland D.L., Spiro D., and Carmel P. Ultrastructural studies of ring fibers in human muscle disease. J Neuropathol Exp Neurol 25 (1966) 431-442
22. Suzuki K. An electron microscope study of the ring fibers and its neuromuscular junction in human progressive muscle dystrophy. Arch Histol Jpn 32 (1970) 375-381
23. Krahn M., Béroud C., Labelle V., Nguyen K., Bernard R., Bassez G., et al. Analysis of the DYSF mutational spectrum in a large cohort of patients. Hum Mutat 30 (2009) E345-E375
24. Liu J., Aoki M., Illa I., Wu C., Fardeau M., Angelini C., et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20 1 (1998) 31-36
25. Saito H., Suzuki N., Ishiguro H., Hirota K., Itoyama Y., Takahashi T., et al. Distal anterior compartment myopathy with early ankle contractures. Muscle Nerve 36 (2007) 525-527
26. Vilchez J.J., Gallano P., Gallardo E., Lasa A., Rojas-Garcia R., Freixas A., et al. Identification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population. Arch Neurol 62 (2005) 1256-1259
27. Khadilkar S.V., Singh R.K., Agrawal P., Krahn M., and Levy N. Twenty-two year follow-up of an Indian family with dysferlinopathy-clinical, immunohistochemical, western blotting and genetic features. Neurol India 56 (2008) 388-390
28. Aoki M., and Takahashi T. Mutational and clinical features of Japanese patients with dysferlinopathy (Miyoshi myopathy and limb girdle muscular dystrophy type 2B). Rinsho Sinkeigaku 45 (2005) 938-942