Desmin-related myopathy: Clinical, electrophysiological, radiological, neuropathological and genetic studies

Journal of the Neurological Sciences

Volumn 219, Issue 1-2, 2004, Pages 125-137

  Olivé, Montse ^a   Goldfarb, Lev ^b   Moreno, Dolores ^a   Laforet, Encarna ^a   Dagvadorj, Ayush ^b   Sambuughin, Nyamkhishig ^b   Martínez Matos, Juan Antonio ^a   Martínez, Francesca ^a   Alió, Josefina ^a   Farrero, Eva ^a   Vicart, Patrick ^c   Ferrer, Isidro ^a  

^a HOSPITAL UNIVERSITARI DE BELLVITGE   (Spain)

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

^c PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

B crystallin; Desmin; Desmin related myopathy; Mutations; Syncoilin; Synemin

Indexed keywords

ACTIN; AMYLOID BETA PROTEIN; CREATINE KINASE; CRYSTALLIN; DESMIN; GELSOLIN; UBIQUITIN;

ADULT; ADULTHOOD; ARTICLE; AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CARDIOMYOPATHY; CATARACT; CELL INCLUSION; CELL ULTRASTRUCTURE; CLINICAL ARTICLE; CLINICAL FEATURE; CREATINE KINASE BLOOD LEVEL; DESMIN RELATED MYOPATHY; ELECTRON; ELECTRONEUROLOGY; ELECTROPHYSIOLOGY; FAMILY HISTORY; FEMALE; GENE DELETION; GENE MUTATION; HUMAN; HUMAN CELL; HUMAN TISSUE; IMMUNOREACTIVITY; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE FIBRIL; MUSCLE WEAKNESS; MYOPATHY; ONSET AGE; PRIORITY JOURNAL; PROTEIN DETERMINATION; RADIOLOGY; RESPIRATORY FAILURE; SPAIN;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALPHA-CRYSTALLIN B CHAIN; BIOPSY; CARDIOMYOPATHY, HYPERTROPHIC; CATARACT; CHILD; DESMIN; ELECTROMYOGRAPHY; FEMALE; HEART BLOCK; HUMANS; INTERMEDIATE FILAMENT PROTEINS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCLE, SKELETAL; MUSCULAR DISEASES; NERVE TISSUE PROTEINS; PEDIGREE; PROTEIN KINASES; RESPIRATORY INSUFFICIENCY; TOMOGRAPHY, X-RAY COMPUTED;

EID: 12144286880     PISSN: 0022510X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jns.2004.01.007     Document Type: Article

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