Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy

American Journal of Medical Genetics

Volumn 102, Issue 4, 2001, Pages 359-367

  Brown, Charlotte A ^a   Lanning, Robert W ^b   McKinney, Kimberly Q ^c   Salvino, Ann R ^d   Cherniske, Elizabeth ^e   Crowe, Carol A ^f   Darras, Basil T ^g   Gominak, Stasha ^h   Greenberg, Cheryl R ⁱ   Grosmann, Carla ^d   Heydemann, Peter ^j   Mendell, Jerry R ^k   Pober, Barbara R ^l   Takeshi Sasaki, F ^a   Shapiro, Rederick ^a   Simpson, David A ^b   Suchowersky, Oksana ^c   Edward Spence, J ^d  

^a CAROLINAS MEDICAL CENTER   (United States)

^b YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c METROHEALTH MEDICAL CENTER   (United States)

^d HARVARD MEDICAL SCHOOL   (United States)

^e Camino Medical Group   (United States)

^f HEALTH SCIENCES CENTRE   (Canada)

^g RADY CHILDREN'S HOSPITAL   (United States)

^h RUSH UNIVERSITY MEDICAL CENTER   (United States)

ⁱ OHIO STATE UNIVERSITY   (United States)

^j BOSTON CHILDREN S HOSPITAL   (United States)

^k Michigan Institute for Neurological Disorders   (United States)

^l UNIVERSITY OF CALGARY   (Canada)

more..

Author keywords

EDMD; Emery Dreifuss muscular dystrophy; Lamin A C; Mutation

Indexed keywords

DNA; LAMIN A; LAMIN C;

ADULT; ALTERNATIVE RNA SPLICING; ARTICLE; CLINICAL ARTICLE; EMERY DREIFUSS MUSCULAR DYSTROPHY; FEMALE; GENE MUTATION; HUMAN; MALE; MISSENSE MUTATION; MUSCLE BIOPSY; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; RECURRENT DISEASE; SCHOOL CHILD; X CHROMOSOME LINKAGE;

ADULT; AMINO ACID SEQUENCE; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; LAMIN TYPE A; LAMINS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION; NUCLEAR PROTEINS; PEDIGREE;

EID: 0035451481     PISSN: 01487299     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.1463     Document Type: Article

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