Desminopathies: Pathology and mechanisms

Acta Neuropathologica

Volumn 125, Issue 1, 2013, Pages 47-75

  Clemen, Christoph S ^a   Herrmann, Harald ^b   Strelkov, Sergei V ^c   Schröder, Rolf ^d  

^a UNIVERSITY OF COLOGNE   (Germany)

^b GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^c DEPARTMENT OF PHARMACEUTICAL AND PHARMACOLOGICAL SCIENCES   (Belgium)

^d UNIVERSITY HOSPITAL ERLANGEN   (Germany)

Author keywords

Desmin; Desminopathy; Intermediate filaments; Myofibrillar myopathy; Protein aggregate myopathy

Indexed keywords

CALPAIN; CASPASE 6; CREATINE KINASE; DESMIN; HEAT SHOCK PROTEIN 27; MYOSPRYN; MYOTUBULARIN; NICOTINIC RECEPTOR; PARANEMIN; PEPTIDES AND PROTEINS; PLECTIN; SKELEMIN; SPECTRIN; SURFACTANT PROTEIN A; UNCLASSIFIED DRUG;

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CARDIOMYOPATHY; CELLULAR DISTRIBUTION; CHROMOSOME 2Q; CLINICAL FEATURE; DESMIN GENE; DESMINOPATHY; DIFFERENTIAL DIAGNOSIS; DISORDERS OF MITOCHONDRIAL FUNCTIONS; ELECTRON MICROSCOPY; FRAMESHIFT MUTATION; GENE; HUMAN; IMMUNODETECTION; LUNG DISEASE; MISSENSE MUTATION; MOLECULAR INTERACTION; MOLECULAR PATHOLOGY; MORTALITY; MUSCLE BIOPSY; MYOPATHY; NONHUMAN; NUCLEOTIDE SEQUENCE; ONSET AGE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN ASSEMBLY; PROTEIN EXPRESSION; PROTEIN PROTEIN INTERACTION; PROTEIN STRUCTURE; REVIEW;

ANIMALS; CARDIOMYOPATHIES; DESMIN; DISEASE MODELS, ANIMAL; HUMANS; INTERMEDIATE FILAMENTS; MUTATION;

EID: 84872356826     PISSN: 00016322     EISSN: 14320533     Source Type: Journal    
DOI: 10.1007/s00401-012-1057-6     Document Type: Review

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