Dysferlin is a surface membrane-associated protein that is absent in Miyoshi myopathy

Neurology

Volumn 53, Issue 5, 1999, Pages 1119-1122

  Matsuda, C ^a,b   Aoki, M ^a,c   Hayashi, Y K ^d   Ho, M F ^a   Arahata, K ^d   Brown Jr , R H ^a  

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

^b NATIONAL INSTITUTE OF ADVANCED INDUSTRIAL SCIENCE AND TECHNOLOGY AIST   (Japan)

^c TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^d NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

Dysferlin; Miyoshi myopathy; Protein

Indexed keywords

DYSTROPHIN; MEMBRANE PROTEIN; MUSCLE PROTEIN; PROTEIN ANTIBODY;

ARTICLE; CONTROLLED STUDY; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MIYOSHI MYOPATHY; MUSCLE FIBER MEMBRANE; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN LOCALIZATION;

EID: 0033595539     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/wnl.53.5.1119     Document Type: Article

References (8)

1. Passos-Bueno MR, Vainzof M, Moreira ES, Zatz M. Seven autosomal recessive limb-girdle muscular dystrophies in the Brazilian population: from LGMD2A to LGMD2G. Am J Med Genet 1999;82:392-398.
2. Liu J, Aoki M, Illa I, et al. Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy. Nat Genet 1998;20:31-36.
3. Bashir R, Britton S, Strachan T, et al. A gene related to Caenorhabditis elegans spermatogenesis factor fer-1 is mutated in limb-girdle muscular dystrophy type 2B. Nat Genet 1998;20: 37-42.
4. Nishino M, Ishibashi T, Nakamura H. Preparation method of highly-purified antibodies from antisera by polyvinylidene difluoride membrane. Application to fatty acid binding proten in rat liver. Biochem Mol Biol Int 1994;34:409-417.
5. Linssen WH, Notermans NC, Van der Graaf Y, et al. Miyoshitype distal muscular dystrophy. Clinical spectrum in 24 Dutch patients. Brain 1997;120:1989-1996.
6. Anderson LV, Davison K, Moss JA, et al. Dysferlin is a plasma membrane protein and is expressed early in human development. Hum Mol Genet 1999;8:855-861.
7. Ward S, Argon Y, Nelson G. Sperm morphogenesis in wild-type and fertilization-defective mutants of Caenorhabditis elegans. J Cell Biol 1981;91:26-44.
8. Yasunaga S, Grati M, Cohen-Salmon M, et al. A mutation in OTOF, encoding otoferlin, a FER-1-like protein, causes DFNB9, a nonsyndromic form of deafness. Nat Genet 1999;21: 363-369.