Proteomic characterization of aggregate components in an intrafamilial variable FHL1-associated myopathy

Neuromuscular Disorders

Volumn 23, Issue 5, 2013, Pages 418-426

  Feldkirchner, Sarah ^a   Walter, Maggie C ^a   Müller, Stefan ^b   Kubny, Christiana ^a   Krause, Sabine ^a   Kress, Wolfram ^c   Hanisch, Franz Georg ^b   Schoser, Benedikt ^a   Schessl, Joachim ^a  

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b UNIVERSITY OF COLOGNE   (Germany)

^c UNIVERSITY OF WÜRZBURG   (Germany)

Author keywords

FHL1; Intrafamilial variability; Myofibrillar myopathy; Protein aggregates; Reducing body myopathy

Indexed keywords

ALPHA B CRYSTALLIN; ALPHA CRYSTALLIN; CREATINE KINASE; DESMIN; FILAMIN; FILAMIN C; FOUR AND A HALF LIM DOMAIN PROTEIN 1; MUSCLE PROTEIN; NEBULIN RELATED ANCHORING PROTEIN; PROTEIN HSP7C; PROTEIN P62; UBIQUITIN 60S RIBOSOMAL PROTEIN L40; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BACKACHE; CASE REPORT; CLINICAL EXAMINATION; DISEASE ASSOCIATION; DISEASE SEVERITY; DOWN REGULATION; ELECTRON MICROSCOPY; FOUR AND A HALF LIM DOMAIN PROTEIN 1 GENE; GENE; GENE MUTATION; GENE OVEREXPRESSION; GENE SEQUENCE; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LASER MICRODISSECTION; LIMB WEAKNESS; MALE; MASS SPECTROMETRY; MUSCLE BIOPSY; MUSCLE HYPERTROPHY; MUSCLE STRENGTH; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN DETERMINATION; PROTEOMICS; QUANTITATIVE ANALYSIS; SANGER SEQUENCING; SEQUENCE ANALYSIS; WESTERN BLOTTING; X LINKED SCAPULO AXIO PERONEAL MYOPATHY;

BIOPSY; GENETIC DISEASES, X-LINKED; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LIM DOMAIN PROTEINS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR DISEASES; MUTATION; PROTEOMICS;

EID: 84876075887     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2013.02.006     Document Type: Article

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