Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene

Annals of Neurology

Volumn 48, Issue 2, 2000, Pages 170-180

  Bonne, G ^a   Mercuri, E ^g   Muchir, A ^a   Urtizberea, A ^a   Becane H M ^a   Recan, D ^b   Merlini, L ⁱ   Wehnert, M ^k   Boor, R ^l   Reuner, U ^m   Vorgerd, M ⁿ   Wicklein, E M ^o   Eymard, B ^a   Duboc, D ^a   Penisson Besnier, I ^d   Cuisset, J M ^d   Ferrer, X ^e   Desguerre, I ^c   Lacombe, D ^f   Bushby, K ^h   Pollitt, C ^j   Toniolo, D ^j   Fardeau, M ^j   Schwartz, K ^a   Muntoni, F ^a   more..

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b Université Paris Descartes   (France)

^c HÔPITAL SAINT VINCENT DE PAUL   (France)

^d Department of Neurology ^*  (France)

^e HAUT LÉVÊQUE HOSPITAL   (France)

^f BORDEAUX UNIVERSITY HOSPITAL   (France)

^g HAMMERSMITH HOSPITAL   (United Kingdom)

^h NEWCASTLE UNIVERSITY   (United Kingdom)

ⁱ RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^j CNR   (Italy)

^k Institute of Human Genetics   (Germany)

^l UNIVERSITY MEDICAL CENTER MAINZ   (Germany)

^m UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

ⁿ RUHR UNIVERSITY BOCHUM   (Germany)

^o UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A; LAMIN C;

ADULT; ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; DELETION MUTANT; DISEASE COURSE; EMERY DREIFUSS MUSCULAR DYSTROPHY; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HEART MUSCLE CONDUCTION SYSTEM; HUMAN; HUMAN TISSUE; MALE; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CONTRACTURE; MUSCLE WEAKNESS; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGE OF ONSET; AGED; BIOPSY; CARDIOVASCULAR PHYSIOLOGY; CHILD; CONTRACTURE; CREATINE KINASE; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FEMALE; GENE DELETION; GENES, DOMINANT; GENOTYPE; HEART; HUMANS; LAMIN TYPE A; LAMINS; MALE; MIDDLE AGED; MUSCLE WEAKNESS; MUSCULAR ATROPHY; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; MUTATION, MISSENSE; MYOCARDIUM; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; PHYSICAL EXAMINATION;

EID: 0033865686     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/1531-8249(200008)48:2<170::AID-ANA6>3.0.CO;2-J     Document Type: Article

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