Desmin-Related Myopathy with Mallory Body-like Inclusions Is Caused by Mutations of the Selenoprotein N Gene

Annals of Neurology

Volumn 55, Issue 5, 2004, Pages 676-686

  Ferreiro, Ana ^a   Ceuterick De Groote, Chantal ^b   Marks, Jared J ^c   Goemans, Nathalie ^d   Schreiber, Gudrun ^e   Hanefeld, Folker ^e   Fardeau, Michel ^a   Martin, Jean Jacques ^b   Goebel, Hans H ^f   Richard, Pascale ^a   Guicheney, Pascale ^a   Bönnemann, Carsten G ^c  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b UNIVERSITY OF ANTWERP   (Belgium)

^c CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^d UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^e UNIVERSITY OF GÖTTINGEN   (Germany)

^f JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA CRYSTALLIN; DESMIN; SELENOPROTEIN;

ADULT; ALPHA B CRYSTALLIN GENE; ARTICLE; CELL INCLUSION; CLINICAL ARTICLE; CLINICAL FEATURE; DESMIN GENE; DESMIN RELATED MYOPATHY; DISEASE CLASSIFICATION; FEMALE; GENE; GENE DELETION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GERMANY; HUMAN; HUMAN CELL; HUMAN TISSUE; MALE; MALLORY BODY; MB DRM GENE; MUSCLE BIOPSY; MUSCLE DISEASE; MUSCULAR DYSTROPHY; MYOPATHY; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN AGGREGATION; RECESSIVE INHERITANCE; RIGID SPINE MUSCULAR DYSTROPHY; SELENOPROTEIN N GENE; SEPN1 GENE;

ADULT; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DESMIN; FEMALE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCULAR DISEASES; MUTATION; PEDIGREE; PROTEINS; SELENOPROTEINS;

EID: 11144353966     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.20077     Document Type: Article

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