title: Clinical and genetic analysis of Korean patients with Miyoshi myopathy: identification of three novel mutations in the DYSF gene.
abstract: Miyoshi myopathy (MM) is an autosomal recessive distal muscular dystrophy caused by mutations in the dysferlin gene (DYSF) on chromosome 2p13. Although MM patients and their mutations in the DYSF gene have been found from all over the world, there is only one report of genetically confirmed case of MM in Korea. Recently, we encountered three unrelated Korean patients with MM and two of them have previously been considered as having a type of inflammatory myopathy. The clinical and laboratory evaluation showed typical features of muscle involvement in MM in all patients but one patient initially had moderate proximal muscle involvement and another showed incomplete quadriparesis with rapid progression. Direct sequencing analysis of the DYSF gene revealed that each patient had compound heterozygous mutations (Gln832X and Trp992Arg, Gln832X and Trp999Cys, and Lys1103X and Ile1401HisfsX8, respectively) among which three were novel. Although MM has been thought to be quite rare in Korea, it should be considered in a differential diagnosis of patients exhibiting distal myopathy.
authors.affiliation: Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Gangnam-gu, Seoul, Korea.
authors.forename: Hyun-Jung
authors.initials: HJ
authors.lastname: Cho
authors.forename: Duck Hyun
authors.initials: DH
authors.lastname: Sung
authors.forename: Eun-Jin
authors.initials: EJ
authors.lastname: Kim
authors.forename: Chul Ho
authors.initials: CH
authors.lastname: Yoon
authors.forename: Chang-Seok
authors.initials: CS
authors.lastname: Ki
authors.forename: Jong-Won
authors.initials: JW
authors.lastname: Kim
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D018389:Codon, Nonsense / Q000235:genetics; D004252:DNA Mutational Analysis; D000073939:Dysferlin; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D007723:Korea; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009124:Muscle Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics
chemical_list: D018389:Codon, Nonsense; C114839:DYSF protein, human; D000073939:Dysferlin; D008565:Membrane Proteins; D009124:Muscle Proteins