DNAJB6 myopathy in an Asian cohort and cytoplasmic/nuclear inclusions

Neuromuscular Disorders

Volumn 23, Issue 3, 2013, Pages 269-276

  Sato, Takatoshi ^a,d   Hayashi, Yukiko K ^a,b   Oya, Yasushi ^c   Kondo, Tomoyoshi ^e   Sugie, Kazuma ^f   Kaneda, Daita ^g   Houzen, Hideki ^h   Yabe, Ichiro ⁱ   Sasaki, Hidenao ⁱ   Noguchi, Satoru ^a,b   Nonaka, Ikuya ^a   Osawa, Makiko ^d   Nishino, Ichizo ^a,b  

^a NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

^b NATIONAL INSTITUTE OF MENTAL HEALTH   (Japan)

^c National Center Hospital of Neurology and Psychiatry   (Japan)

^d TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^e WAKAYAMA MEDICAL UNIVERSITY   (Japan)

^f NARA MEDICAL UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^g OSAKA RED CROSS HOSPITAL   (Japan)

^h Department of Anesthesia   (Japan)

ⁱ HOKKAIDO UNIVERSITY   (Japan)

Author keywords

Chaperone assisted selective autophagy (CASA); DnaJ homolog; Heat shock protein (HSP); Limb girdle muscular dystrophy type 1D (LGMD1D); Member 6 (DNAJB6); Protein aggregation; Subfamily B

Indexed keywords

DNAJ HOMOLOG SUBFAMILY B MEMBER 6; HEAT SHOCK PROTEIN 22; PROTEIN DNAJ; UNCLASSIFIED DRUG; CHAPERONE; DNAJB6 PROTEIN, HUMAN; HEAT SHOCK PROTEIN; HEAT SHOCK PROTEIN 40; HSPB8 PROTEIN, HUMAN; NERVE PROTEIN; PROTEIN SERINE THREONINE KINASE;

ADULT; AGED; AMINO ACID SUBSTITUTION; ARTICLE; ASIAN; CELL INCLUSION; CELL NUCLEUS INCLUSION BODY; CHAPERONE-MEDIATED AUTOPHAGY; CLINICAL FEATURE; COHORT ANALYSIS; CONTROLLED STUDY; DNAJB6 GENE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; JAPANESE (PEOPLE); LIMB GIRDLE MUSCULAR DYSTROPHY; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; GENETICS; JAPAN; MUTATION; NUCLEOTIDE SEQUENCE; PATHOLOGY; SKELETAL MUSCLE;

ADULT; AGED; ASIAN CONTINENTAL ANCESTRY GROUP; DNA MUTATIONAL ANALYSIS; FEMALE; HEAT-SHOCK PROTEINS; HSP40 HEAT-SHOCK PROTEINS; HUMANS; INCLUSION BODIES; INTRANUCLEAR INCLUSION BODIES; JAPAN; MALE; MIDDLE AGED; MOLECULAR CHAPERONES; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; MUTATION; NERVE TISSUE PROTEINS; PROTEIN-SERINE-THREONINE KINASES;

EID: 85027922212     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2012.12.010     Document Type: Article

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