title: Dysferlin mutations in Japanese Miyoshi myopathy: relationship to phenotype.
abstract: OBJECTIVE
  To study dysferlin gene mutations and genotype-phenotype correlations in Japanese patients with Miyoshi myopathy (MM).
  
  
  BACKGROUND
  MM is an autosomal recessive distal muscular dystrophy that arises from mutations in the dysferlin gene. This gene is also mutated in families with limb girdle muscular dystrophy 2B.
  
  
  METHODS
  The authors examined 25 Japanese patients with MM. Genomic DNA was extracted from the peripheral lymphocytes of the patients. The PCR products of each of 55 exons were screened by single strand conformation polymorphism or direct sequencing from the PCR fragments.
  
  
  RESULTS
  The authors identified 16 different mutations in 20 patients with MM; 10 were novel. Mutations in Japanese patients are distributed along the entire length of the gene.
  
  
  CONCLUSIONS
  Four mutations (C1939G, G3370T, 3746delG, and 4870delT) are relatively more prevalent in this population, accounting for 60% of the mutations in this study. This study revealed that the G3370T mutation was associated with milder forms of MM and the G3510A mutation was associated with a more severe form.
authors.affiliation: Department of Neurology, Tohoku University School of Medicine, Sendai, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Takahashi
authors.forename: M
authors.initials: M
authors.lastname: Aoki
authors.forename: M
authors.initials: M
authors.lastname: Tateyama
authors.forename: E
authors.initials: E
authors.lastname: Kondo
authors.forename: T
authors.initials: T
authors.lastname: Mizuno
authors.forename: Y
authors.initials: Y
authors.lastname: Onodera
authors.forename: R
authors.initials: R
authors.lastname: Takano
authors.forename: H
authors.initials: H
authors.lastname: Kawai
authors.forename: K
authors.initials: K
authors.lastname: Kamakura
authors.forename: H
authors.initials: H
authors.lastname: Mochizuki
authors.forename: M
authors.initials: M
authors.lastname: Shizuka-Ikeda
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
authors.forename: Y
authors.initials: Y
authors.lastname: Yoshida
authors.forename: J
authors.initials: J
authors.lastname: Akanuma
authors.forename: K
authors.initials: K
authors.lastname: Hoshino
authors.forename: H
authors.initials: H
authors.lastname: Saito
authors.forename: M
authors.initials: M
authors.lastname: Nishizawa
authors.forename: S
authors.initials: S
authors.lastname: Kato
authors.forename: K
authors.initials: K
authors.lastname: Saito
authors.forename: T
authors.initials: T
authors.lastname: Miyachi
authors.forename: H
authors.initials: H
authors.lastname: Yamashita
authors.forename: M
authors.initials: M
authors.lastname: Kawai
authors.forename: T
authors.initials: T
authors.lastname: Matsumura
authors.forename: S
authors.initials: S
authors.lastname: Kuzuhara
authors.forename: T
authors.initials: T
authors.lastname: Ibi
authors.forename: K
authors.initials: K
authors.lastname: Sahashi
authors.forename: H
authors.initials: H
authors.lastname: Nakai
authors.forename: T
authors.initials: T
authors.lastname: Kohnosu
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: K
authors.initials: K
authors.lastname: Arahata
authors.forename: R H
authors.initials: RH
authors.lastname: Brown
authors.forename: H
authors.initials: H
authors.lastname: Saito
authors.forename: Y
authors.initials: Y
authors.lastname: Itoyama
mesh_terms: D000328:Adult; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D000073939:Dysferlin; D005260:Female; D005838:Genotype; D006801:Humans; D007564:Japan / Q000453:epidemiology; D008297:Male; D008565:Membrane Proteins; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation; D010641:Phenotype; D011110:Polymorphism, Genetic
chemical_list: C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins; D003402:Creatine Kinase