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 Institut Cochin   (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

References (36)

1. Unusual type of benign X-linked muscular dystrophy
2. X-linked muscular dystrophy with early contractures and cardiomyopathy (Emery-Dreifuss type)
3. Emery-Dreifuss muscular dystrophy: Report of five cases in a family and review of the literature
4. 43rd ENMC International Workshop on Emery-Dreifuss Muscular Dystrophy, 22 June 1996, Naarden, The Netherlands
5. Cardiac involvement in Emery Dreifuss muscular dystrophy: A case series
6. 60th ENMC International Workshop: Non X-linked Emery-Dreifuss Muscular Dystrophy, 5-7 June 1998
7. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
8. The Emery-Dreifuss muscular dystrophy protein, emerin, is a nuclear membrane protein
9. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy
10. Une myopathie avec retractions familiales. Nouvelle iconographie de la Salpetriere. Nouvelle Iconographic de la Salpetriere
11. Muscular shortening and dystrophy: A heredofamilial disease
12. An autosomal-dominant dystrophy with humeropelvic distribution and cardiomyopathy
13. Emery-Dreifuss muscular dystrophy with autosomal dominant transmission
14. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
15. Nuclear lamins: Their structure, assembly, and interactions
16. High incidence of sudden death in a new form of dilated cardiomyopathy due to a lamin A/C gene mutation
17. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
18. Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy
19. Genetic localisation of autosomal dominant Emery-Dreifuss muscular dystrophy. IX International Congress on Neuromuscular Diseases
20. Signals for the selection of a splice site in pre-mRNA. Computer analysis of splice junction sequences and like sequences
21. Restriction sites containing CpG show a higher frequency of polymorphism in human DNA
22. The CpG dinucleotide and human genetic disease
23. Emery-Dreifuss muscular dystrophy mutation. Database
24. Severe clinical expression in X-linked Emery-Dreifuss muscular dystrophy
25. cDNA sequencing of nuclear lamins A and C reveals primary and secondary structural homology to intermediate filament proteins
26. Homologies in both primary and secondary structure between nuclear envelope and intermediate filament proteins
27. The lamin B receptor of the nuclear envelope inner membrane: A polytopic protein with eight potential transmembrane domains
28. The alpha-helical rod domain of human lamins A and C contains a chromatin binding site
29. A chromatin binding site in the tail domain of nuclear lamins that interacts with core histones
30. The major nuclear envelope targeting domain of LAP2 coincides with its lamin binding region but is distinct from its chromatin interaction domain
31. Prenylated prelamin A interacts with Narf, a novel nuclear protein
32. The Emery-Dreifuss muscular dystrophy phenotype arises from aberrant targeting and binding of emerin at the inner nuclear membrane
33. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease
34. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
35. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy