Miyoshi myopathy patients with novel 5′ splicing donor site mutations showed different dysferlin immunostaining at the sarcolemma

Acta Neuropathologica

Volumn 104, Issue 6, 2002, Pages 615-620

  Saito, Akiko ^a   Higuchi, Itsuro ^a   Nakagawa, Masanori ^a   Saito, Mineki ^a   Hirata, Keiko ^a   Suehara, Masahito ^b   Yoshida, Yoshihiro ^a   Takahashi, Toshiaki ^c   Aoki, Masashi ^c   Osame, Mitsuhiro ^a  

^a KAGOSHIMA UNIVERSITY   (Japan)

^b National Hospital Organization Okinawa National Hospital   (Japan)

^c TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

Author keywords

Dysferlin; Immunohistochemistry; Miyoshi myopathy; Splicing mutation; Western blot

Indexed keywords

CYTOPLASM PROTEIN; DYSFERLIN; GLUTAMINE; TYROSINE;

ADOLESCENT; ADULT; AMINO ACID SUBSTITUTION; ARTICLE; BECKER MUSCULAR DYSTROPHY; CLINICAL ARTICLE; CONTROLLED STUDY; DISEASE SEVERITY; DONOR SITE; EXON; FEMALE; GENE MUTATION; GENETIC ANALYSIS; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MIYOSHI MYOPATHY; MUSCLE BIOPSY; MUSCLE TISSUE; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN EXPRESSION; RNA SPLICING; SARCOLEMMA; WESTERN BLOTTING;

EID: 0036942395     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-002-0593-x     Document Type: Article

References (13)

1. Anderson LV, Davison K (1999) Multiplex western blotting system for the analysis of muscular dystrophy proteins. Am J Pathol 154:1017-1022
2. Anderson LV, Davison K, Moss JA, Young C, Cullen MJ, Walsh J, Johnson MA, Bashir R, Britton S, Keers S, Argov Z, Mahjneh I, Fougerousse F, Beckmann JS, Bushby KMD (1999) Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet 8:855-861
3. Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Oeltjen JV, Brown HE, Marchand S, Bourg N, Beley C, McKenna-Yasek D, Arahata K, Bohlega S, Cupler E, Illa I, Majneh I, Barohn RJ, Urtizberea JA, Fardeau M, Amato A, Angelini C, Bushby K, Beckmann JS, Brown RH Jr (2001) Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology 57:271-278
4. Bashir R, Britton S, Strachan T, Keers S, Vafiadaki E, Lako M, Richard I, Marchand S, Bourg N, Argov Z, Sadeh M, Mahjneh I, Marconi G, Passos-Bueno MR, Moreira Ed, Zatz M, Beckmann JS, Bushby K (1998) A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 20:37-42
5. Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR, Nylen E, Sukhorukov VS, Poleshchuk VV, Markova ED, Wrogemann K (2000) Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Neurology 55:1931-1933
6. Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, Jong PJ de, Brown RH Jr (1998) Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20:31-36
7. Nakagawa M, Matsuzaki T, Suehara M, Kanzato N, Takashima H, Higuchi I, Matsumura T, Goto K, Arahata K, Osame M (2001) Phenotypic variation in a large Japanese family with Miyoshi myopathy with nonsense mutation in exon 19 of dysferlin gene. J Neurol Sci 184:15-19
8. Nicholson LVB, Davison K, Falkous G, Harwood C, O'Donnell E, Slater CR, Harris JB (1989) Dystrophin in skeletal muscle. I. Western blot analysis using a monoclonal antibody. J Neurol Sci 94:125-136
9. Nicholson LVB, Johnson MA, Gardner-Medwin D, Bhattacharya S, Harris JB (1990) Heterogeneity of dystrophin expression in patients with Duchenne and Becker muscular dystrophy. Acta Neuropathol 80:239-250
10. Piccolo F, Moore SA, Ford GC, Campbell KP (2000) Intracellular accumulation and reduced sarcolemmal expression of dysferlin in limb-girdle muscular dystrophies. Ann Neurol 48: 902-912
11. Pogue R, Anderson LVB, Pyle A, Sewry C, Pollitt C, Johnson MA, Davison K, Moss JA, Mercuri E, Muntoni F, Bushby KMD (2001) Strategy for mutation analysis in the recessive limb-girdle muscular dystrophies. Neuromuscl Disord 11:80-87
12. Ueyama H, Kumamoto T, Nagao SI, Masuda T, Horinouchi H, Fujimoto S, Tsuda T (2001) A new dysferlin gene mutation in two Japanese families with limb-girdle muscular dystrophy 2B and Miyoshi myopathy. Neuromuscl Disord 11:139-145
13. Weiler T, Bashir R, Anderson LVB, Davison K, Moss JA, Britton S, Nylen E, Keers S, Vafiadaki E, Greenberg CR, Bushby KMD, Wrogemann K (1999) Identical mutation in patients with limb girdle muscular dystrophy type 2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Mol Genet 8:871-877