Elevated urinary β2 microglobulin in the first identified Japanese family afflicted by X-linked myopathy with excessive autophagy

Neuromuscular Disorders

Volumn 23, Issue 11, 2013, Pages 911-916

  Kurashige, Takashi ^a   Takahashi, Tetsuya ^a   Yamazaki, Yu ^a   Nagano, Yoshito ^a   Kondo, Keita ^a   Nakamura, Takeshi ^a   Yamawaki, Takemori ^a   Tsuburaya, Rie ^b   Hayashi, Yukiko K ^b   Nonaka, Ikuya ^b   Nishino, Ichizo ^b   Matsumoto, Masayasu ^a  

^a HIROSHIMA UNIVERSITY   (Japan)

^b NATIONAL INSTITUTE OF NEUROSCIENCE   (Japan)

Author keywords

2 Microglobulin; Autophagic vacuole with sarcolemmal features (AVSF); VMA21; X linked myopathy with excessive autophagy (XMEA)

Indexed keywords

BETA 2 MICROGLOBULIN; CREATINE KINASE; DYSTROPHIN; LYSOSOME ASSOCIATED MEMBRANE PROTEIN 2; LYSOZYME;

ADULT; ARTICLE; BECKER MUSCULAR DYSTROPHY; BICEPS BRACHII MUSCLE; CELL VACUOLE; CLINICAL ARTICLE; CREATINE KINASE BLOOD LEVEL; DISTAL MYOPATHY; ELECTROMYOGRAM; ELECTRON MICROSCOPY; FAMILY; GENE; GENE MUTATION; GLYCOGEN STORAGE DISEASE TYPE 2; HEMIZYGOSITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOFLUORESCENCE TEST; IMMUNOHISTOCHEMISTRY; INCLUSION BODY MYOSITIS; JAPANESE; MALE; MUSCLE BIOPSY; MUSCLE WEAKNESS; MYOPATHY; MYOTONIA; NUCLEAR MAGNETIC RESONANCE IMAGING; PEDIGREE ANALYSIS; POLYMYOSITIS; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN URINE LEVEL; SARCOLEMMA; VMA21 GENE; X CHROMOSOME LINKED DISORDER; X LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY;

AUTOPHAGIC VACUOLE WITH SARCOLEMMAL FEATURES (AVSF); VMA21; X-LINKED MYOPATHY WITH EXCESSIVE AUTOPHAGY (XMEA); Β2 MICROGLOBULIN;

ADULT; ASIAN CONTINENTAL ANCESTRY GROUP; BETA 2-MICROGLOBULIN; GENETIC DISEASES, X-LINKED; HUMANS; JAPAN; MALE; MIDDLE AGED; MUSCLE FIBERS, SKELETAL; MUSCULAR DISEASES; MUTATION; VACUOLAR PROTON-TRANSLOCATING ATPASES;

EID: 84884972928     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.06.003     Document Type: Article

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