Clinical and histopathological aspects of central core disease associated and non-associated with RYR1 locus

Acta Myologica

Volumn 24, Issue 2, 2005, Pages 70-73

  Romero, Norma Beatriz ^a,h   Herasse, M ^a   Monnier, N ^b   Leroy, J P ^c   Fischer, D ^a,d   Ferreiro, A ^a   Viollet, L ^e   Eymard, B ^a   Laforet P ^a   Monges, S ^f   Lubieniecki, F ^f   Taratuto, A L ^f   Guicheney, P ^a   Lunardi, J ^b,g   Fardeau, M ^a  

^a INSERM   (France)

^b GRENOBLE UNIVERSITY HOSPITAL   (France)

^c BREST UNIVERSITY HOSPITAL   (France)

^d UNIVERSITY OF BONN   (Germany)

^e RAYMOND POINCARÉ HOSPITAL   (France)

^f HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^g UNIV GRENOBLE ALPES   (France)

^h PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Central core disease; Congenital myopathies; Ryanodine receptor 1 gene

Indexed keywords

COMPLEMENTARY DNA; RYANODINE RECEPTOR;

AUTOSOMAL DOMINANT DISORDER; AUTOSOMAL RECESSIVE DISORDER; CELL ULTRASTRUCTURE; CENTRAL CORE DISEASE; CONFERENCE PAPER; DNA SEQUENCE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GENETIC IDENTIFICATION; GENETIC LINKAGE; HISTOCHEMISTRY; HISTOPATHOLOGY; HUMAN;

HUMANS; IMMUNOHISTOCHEMISTRY; MYOPATHY, CENTRAL CORE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 33344477902     PISSN: 11282460     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Conference Paper

References (10)

1. Fardeau M. and Tome F. Congenital myopathies. In Engel A.G. and Franzini-Amstrong B. (eds), Myology. New York, McGraw-Hill Book Company, USA, 2ème ed., 1994; Vol. 2:1487-582.
2. Romero NB, Monnier N, Viollet L, et al. Dominant and recessive Central Core Diseases associated with RYR1 mutations and foetal akinesia. Brain 2003;126:2341-49
3. Haan EA, Freemantle CJ, McCure JA, Friend KL, Mulley JC Assignment of the gene for central core disease to chromosome 19. Hum Genet 1990;86:187-90.
4. Monnier N, Romero NB, Lerale J, et al. An autosomal dominant congenital myopathy with cores and rods is associated with a neomutation in the RYR1 gene encoding the skeletal ryanodine receptor. Hum Mol Genet. 2000;9:2599-608.
5. Monnier N, Romero NB, Lerale J, et al. Familial and sporadic forms of Central Core Disease are associated with mutations in C-terminal domain of skeletal muscle ryanodine receptor. Hum Mol Genet. 2001;10:2581-92.
6. Tilgen N, Zorzato F, Halliger-Keller B, et al. Identification of four novel mutations in the C-terminal membrane-spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis. Hum Mol Genet. 2001;10:2879-87.
7. Davis MR, Haan E, Jungbluth H, et al. Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. Neuromuscul Disord 2003;13:151-7.
8. Romero NB, Monnier N, Taratuto AL, et al. Autosomal dominant Central Core Diseases associated with RYR1 gene mutations and important clinical variability among successive generations. Abstract 402 in AFM-MYOLOGY 2005 meeting, Nantes, 9-13 may 2005.
9. Romero NB, Monnier N, Ferreiro A, et al. Severe forms of Central Core Disease due to recessively inherited RYR1 mutations. Abstract 404 in AFM-MYOLOGY 2005 meeting, Nantes, 9-13 may 2005.
10. Jungbluth H, Davis MR, Muller C et al. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul.Disord. 2004;14:785-90.