Clinical and myopathological evaluation of early- and late-onset subtypes of myofibrillar myopathy

Neuromuscular Disorders

Volumn 21, Issue 8, 2011, Pages 533-542

  Olivé, Montse ^a,b   Odgerel, Zagaa ^c   Martínez, Amaia ^a   Poza, Juan José ^b,d   Bragado, Federico García ^e   Zabalza, Ramón J ^d   Jericó, Ivonne ^e   Gonzalez Mera, Laura ^a   Shatunov, Alexey ^b   Lee, Hee Suk ^b   Armstrong, Judith ^a   Maraví, Elías ^e   Arroyo, Maria Ramos ^e   Pascual Calvet, Jordi ^f   Navarro, Carmen ^g   Paradas, Carmen ^b,h   Huerta, Mariano ⁱ   Marquez, Fabian ^j   Rivas, Eduardo Gutierrez ^k   Pou, Adolf ^f   Ferrer, Isidre ^a,b   Goldfarb, Lev G ^c   more..

^a HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED SOBRE ENFERMEDADES NEURODEGENERATIVAS CIBERNED   (Spain)

^c NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE   (United States)

^d HOSPITAL DONOSTIA   (Spain)

^e Instituto de Investigación Sanitaria de Navarra   (Spain)

^f HOSPITAL DEL MAR   (Spain)

^g HOSPITAL DO MEIXOEIRO   (Spain)

^h HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

ⁱ HOSPITAL DE VILADECANS   (Spain)

^j HOSPITAL JOSEP TRUETA   (Spain)

^k HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

more..

Author keywords

Desmin; Myofibrillar myopathy; Myotilin; Zasp

Indexed keywords

ADULT; ARTICLE; BAG3 GENE; CARDIOVASCULAR SYSTEM EXAMINATION; CELL INCLUSION; CLINICAL EVALUATION; CONTROLLED STUDY; CRYAB GENE; DES GENE; DIAGNOSTIC IMAGING; DISEASE ASSOCIATION; DISEASE COURSE; ELECTRON MICROSCOPY; ETHNICITY; FEMALE; FLNC GENE; GENE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HUMAN; HUMAN TISSUE; LUNG FUNCTION TEST; MAJOR CLINICAL STUDY; MALE; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE FIBRIL; MYOFIBRILLAR MYOPATHY; MYOPATHY; MYOT GENE; NEUROLOGIC EXAMINATION; ONSET AGE; PATHOGENESIS; PATHOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROCESS OPTIMIZATION; RETROSPECTIVE STUDY; ZASP GENE;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ADULT; AGE OF ONSET; AGED; BIOPSY; CYTOSKELETAL PROTEINS; DESMIN; FEMALE; HUMANS; LIM DOMAIN PROTEINS; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR DISEASES; MUTATION; MYOFIBRILS; PHENOTYPE; RETROSPECTIVE STUDIES; SPAIN; YOUNG ADULT;

EID: 79960928910     PISSN: 09608966     EISSN: 18732364     Source Type: Journal    
DOI: 10.1016/j.nmd.2011.05.002     Document Type: Article

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