Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy

European Journal of Neurology

Volumn 11, Issue 10, 2004, Pages 657-661

  Kawabe, K ^a,b   Goto, K ^a   Nishino, I ^a   Angelini, C ^c   Hayashi, Yukiko K ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b TOHO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^c UNIVERSITY OF PADOVA   (Italy)

Author keywords

Dysferlin; Limb girdle muscular dystrophy (LGMD); Miyoshi myopathy (MM); Mutation; Polymorphism

Indexed keywords

DYSFERLIN;

ADOLESCENT; ADULT; ANTERIOR TIBIAL SYNDROME; ARTICLE; CHROMOSOME 2P; CLINICAL ARTICLE; CLINICAL FEATURE; CODON; DELETION MUTANT; DYSF GENE; EPIGENETICS; FEMALE; GENE; GENE INSERTION; GENE MUTATION; GENETIC POLYMORPHISM; HUMAN; IMMUNOBLOTTING; ITALY; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; MISSENSE MUTATION; MIYOSHI MYOPATHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; POPULATION RESEARCH; PRIORITY JOURNAL; PROTEIN FAMILY; SCHOOL CHILD; SYMPTOMATOLOGY;

ADOLESCENT; ADULT; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HAPLOTYPES; HUMANS; ITALY; LINKAGE (GENETICS); MALE; MEMBRANE PROTEINS; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; OCEANIC ANCESTRY GROUP; POLYMERASE CHAIN REACTION;

EID: 6344234931     PISSN: 13515101     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1468-1331.2004.00755.x     Document Type: Article

References (20)

1. Anderson LV, Davison K, Moss JA et al. (1999). Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet 8:855-861.
2. Anderson LV, Harrison RM, Pogue R et al. (2000). Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies). Neuromuscul Disord 10:553-559.
3. Aoki M, Liu J, Richard I et al. (2001). Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy. Neurology 57:271-278.
4. Bansal D, Miyake K, Vogel SS et al. (2003). Defective membrane repair in dysferlin-deficient muscular dystrophy. Nature 423:168-172.
5. Bashir R, Britton S, Strachan T et al. (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.
6. Bejaoui K, Hirabayashi K, Hentati F et al. (1995). Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14. Neurology 45:768-772.
7. Britton S, Freeman T, Vafiadaki E et al. (2000). The third human FER-1-like protein is highly similar to dysferlin. Genomics 68:313-321.
8. Fanin M, Pegoraro E, Matsuda-Asada C, Brown RH, Jr, Angelini C (2001). Calpain-3 and dysferlin protein screening in patients with limb-girdle dystrophy and myopathy. Neurology 56:660-665.
9. Illa I, Serrano-Munuera C, Gallardo E et al. (2001). Distal anterior compartment myopathy: a dysferlin mutation causing a new muscular dystrophy phenotype. Ann Neurol 49:130-134.
10. Illarioshkin SN, Ivanova-Smolenskaya IA, Greenberg CR et al. (2000). Identical dysferlin mutation in limb-girdle muscular dystrophy type 2B and distal myopathy. Neurology 55:1931-1933.
11. Liu J, Aoki M, Illa I et al. (1998a). Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 20:31-36.
12. Liu J, Wu C, Bossie K et al. (1998b). Generation of a 3-Mb PAC contig spanning the Miyoshi myopathy/limb-girdle muscular dystrophy (MM/LGMD2B) locus on chromosome 2p13. Genomics 49:23-29.
13. Matsuda C, Aoki M, Hayashi YK, Ho MF, Arahata K, Brown RH, Jr (1999). Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy. Neurology 53:1119-1122.
14. Matsumura T, Aoki M, Nagano A et al. (1999). Molecular genetic analysis of dysferlin in Japanese patients with Miyoshi myopathy. Proc Japan Acad Ser B 75:207-212.
15. Miyoshi K, Saijo K, Kuryu T et al. (1967). Four cases of distal myopathy in two families. Jpn J Hum Genet 12:113.
16. Miyoshi K, Kawai H, Iwasa M, Kusaka K, Nishino H (1986). Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy. Seventeen cases in eight families including an autopsied case. Brain 109:31-54.
17. Nakagawa M, Matsuzaki T, Suehara M et al. (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.
18. Nalefski EA, Falke JJ (1996). The C2 domain calcium-binding motif: structural and functional diversity. Protein Sci 5:2375-2390.
19. Rizo, J and Sudhof, TC (1998). C2-domains, structure and function of a universal Ca2+-binding domain. J Biol Chem 273:15879-15882.
20. Weiler T, Bashir R, Anderson LV et al. (1999). Identical mutation in patients with limb girdle muscular dystrophy type2B or Miyoshi myopathy suggests a role for modifier gene(s). Hum Mol Genet 8:871-877.