Defective myotilin homodimerization caused by a novel mutation in MYOT exon 9 in the first Japanese limb girdle muscular dystrophy 1A patient

Journal of Neuropathology and Experimental Neurology

Volumn 68, Issue 6, 2009, Pages 701-707

  Shalaby, Sherine ^a   Mitsuhashi, Hiroaki ^a   Matsuda, Chie ^b   Minami, Narihiro ^c   Noguchi, Satoru ^a   Nonaka, Ikuya ^a   Nishino, Ichizo ^a   Hayashi, Yukiko K ^a  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

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

^c NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

Author keywords

Distal myopathy; Homodimer; Immunoglobulin like domain; Limb girdle muscular dystrophy; Myofibrillar myopathy; Myotilin; Myotilinopathy

Indexed keywords

ALPHA ACTININ; FATTY ACID BINDING PROTEIN; HOMODIMER; IMMUNOGLOBULIN; MONOMER; MYOTILIN; UNCLASSIFIED DRUG; ACTININ; ACTN2 PROTEIN, HUMAN; ARGININE; CYTOSKELETON PROTEIN; LYSINE; MUSCLE PROTEIN; MYOT PROTEIN, HUMAN; NICOTINAMIDE ADENINE DINUCLEOTIDE; SERINE;

ADULT; ARTICLE; DIMERIZATION; DISTAL MYOPATHY; DNA SEQUENCE; EXON; FEMALE; GENE IDENTIFICATION; GENE MUTATION; GENETIC CODE; HUMAN; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; JAPANESE; LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MICROSCOPY; MUSCLE ATROPHY; MUSCLE BIOPSY; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DOMAIN; ANIMAL; CASE REPORT; CELL STRAIN COS1; CERCOPITHECUS; GENETIC TRANSFECTION; GENETICS; JAPAN; MALE; METABOLISM; METHODOLOGY; MIDDLE AGED; MISSENSE MUTATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PATHOLOGY; PROTEIN TERTIARY STRUCTURE; TWO HYBRID SYSTEM;

ACTININ; ANIMALS; ARGININE; CERCOPITHECUS AETHIOPS; COS CELLS; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; EXONS; FEMALE; HUMANS; IMMUNOPRECIPITATION; JAPAN; LYSINE; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION, MISSENSE; NAD; PROTEIN STRUCTURE, TERTIARY; SERINE; TRANSFECTION; TWO-HYBRID SYSTEM TECHNIQUES;

EID: 67649413408     PISSN: 00223069     EISSN: None     Source Type: Journal    
DOI: 10.1097/NEN.0b013e3181a7f703     Document Type: Article

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