Familial myopathy with desmin storage seen as a granulo-filamentar, electron-dense material without mutation of the αβ-cristallin gene;Miopatía familiar con sobrecarga de desmina, bajo forma de material granulofilamentoso denso en microscopia electrónica, sin mutación en el gen de la αβ-cristalina

Neurologia

Volumn 16, Issue 5, 2001, Pages 195-203

  Pou Serradell, A ^a   Lloreta Trull, J ^a   Corominas Torres, J M ^a   Guicheney, P ^a  

^a UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

Author keywords

crystallin chaperone gene; Desmin related myopathy; Myocardiopathies; Myofibrillar myopathy

Indexed keywords

ALPHA CRYSTALLIN; BETA CRYSTALLIN; DESMIN;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CARDIOMYOPATHY; CASE REPORT; CLINICAL FEATURE; ELECTROMYOGRAPHY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC HETEROGENEITY; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MUSCLE BIOPSY; MYOPATHY; ULTRASTRUCTURE;

ADULT; ANTIBODIES; BIOPSY; CRYSTALLINS; DESMIN; ELECTROMYOGRAPHY; FEMALE; GENE EXPRESSION; HUMANS; IMMUNOHISTOCHEMISTRY; MAGNETIC RESONANCE IMAGING; MALE; MICROFILAMENTS; MICROSCOPY, ELECTRON; MUSCLE, SKELETAL; MYOPATHIES, STRUCTURAL, CONGENITAL; PEDIGREE; POINT MUTATION;

EID: 0034842209     PISSN: 02134853     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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