Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern

Neuromuscular Disorders

Volumn 20, Issue 8, 2010, Pages 517-523

  Deconinck, N ^a,b   Dion, E ^c   Yaou, R Ben ^b,d,e   Ferreiro, A ^b,f,g   Eymard, B ^b,f   Brinas L ^b,d,e   Payan, C ^b   Voit, T ^b,d,e   Guicheney, P ^b,h   Richard, P ^b,f,h   Allamand, V ^b,d,e   Bonne, G ^b,c,d,e   Stojkovic, T ^f  

^a HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^b SORBONNE UNIVERSITÉ   (France)

^c HÔPITAL LOUIS MOURIER   (France)

^d CNRS   (France)

^e Sorbonne Université   (France)

^f PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^g RAYMOND POINCARÉ HOSPITAL   (France)

^h Institute OfCardiometabolism and Nutrition   (France)

Author keywords

COL VI; CT scanner; EDMD2; LMNA

Indexed keywords

COLLAGEN TYPE 6; COLLAGEN TYPE 6 ALPHA1; COLLAGEN TYPE 6 ALPHA2; COLLAGEN TYPE 6 ALPHA3; LAMIN A; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BETHLEM MYOPATHY; CHILD; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; DIFFERENTIAL DIAGNOSIS; DISEASE DURATION; EMERY DREIFUSS MUSCULAR DYSTROPHY; GASTROCNEMIUS MUSCLE; GENETIC ANALYSIS; GRACILIS MUSCLE; HUMAN; HUMAN TISSUE; MISSENSE MUTATION; MUSCULAR DYSTROPHY; MUTATIONAL ANALYSIS; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RECTUS FEMORIS MUSCLE; RETROSPECTIVE STUDY; SARTORIUS MUSCLE; SCHOOL CHILD; ULLRICH CONGENITAL MUSCULAR DYSTROPHY; VASTUS LATERALIS MUSCLE; VASTUS MEDIALIS MUSCLE;

ADIPOSE TISSUE; ADOLESCENT; ADULT; AGE OF ONSET; COLLAGEN DISEASES; COLLAGEN TYPE VI; DIAGNOSIS, DIFFERENTIAL; DNA; FEMALE; HUMANS; MALE; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION; RETROSPECTIVE STUDIES; TOMOGRAPHY, X-RAY COMPUTED; YOUNG ADULT;

EID: 77955271380     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2010.04.009     Document Type: Article

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