title: Dysferlin mutation in a Chinese pedigree with Miyoshi myopathy.
abstract: OBJECTIVE
  Mutations in the dysferlin gene cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy and limb-girdle muscular dystrophy type 2B. The purpose of this study was to diagnose a Chinese pedigree with the autosomal recessive form of muscular dystrophy and conduct mutational screening.
  
  
  METHODS
  The pedigree was diagnosed accurately by using two-point linkage analysis and multi-Western blot analysis. Mutations were determined by reverse transcriptase polymerase chain reaction (RT-PCR) followed by DNA sequencing.
  
  
  RESULTS
  Two-point linkage analysis showed significant LOD scores with makers from chromosome 2p13. Multi-Western blot analysis confirmed dysferlin deficiency of muscle specimen from the propositus. Mutation analysis of the dysferlin gene revealed a novel mutation, 6429delG, on exon 53.
  
  
  CONCLUSIONS
  We identified an inbred Chinese pedigree with Miyoshi myopathy caused by the 6429delG mutation in the dysferlin gene. This mutation is predicted to result in premature termination of translation contributing to Miyoshi myopathy.
authors: Department of Medical Laboratory Science, Ruijin Hospital, Shanghai Second Medical University, Shanghai 200025, China.
authors: Sun
authors: S
authors: Shunchang
authors: Qishi
authors: Q
authors: Fan
authors: Wu
authors: W
authors: Huacheng
authors: France
authors: F
authors: Leturcq
authors: Song
authors: S
authors: Yongjian
authors: Zhang
authors: Z
authors: Bingfeng
authors: Yu
authors: Y
authors: Wen
authors: Nathalie
authors: N
authors: Deburgrave
mesh_terms: D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D001706:Biopsy; D015153:Blotting, Western; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics; D003241:Consanguinity; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000235:genetics; D018076:DNA, Complementary / Q000235:genetics; D049310:Distal Myopathies / Q000145:classification / Q000208:ethnology / Q000235:genetics*; D000073939:Dysferlin; D016368:Frameshift Mutation; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000172:deficiency / Q000235:genetics*; D008875:Middle Aged; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000172:deficiency / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins