Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene

Neurology

Volumn 67, Issue 12, 2006, Pages 2217-2220

  Fischer, D ^a,f,g   Herasse, M ^a   Ferreiro, A ^a   Barragan Campos H M ^a   Chiras, J ^a   Viollet, L ^b   Maugenre, S ^a   Leroy, J P ^c   Monnier, N ^d   Lunardi, J ^d,e   Guicheney, P ^a   Fardeau, M ^a   Romero, N B ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^b RAYMOND POINCARÉ HOSPITAL   (France)

^c BREST UNIVERSITY HOSPITAL   (France)

^d GRENOBLE UNIVERSITY HOSPITAL   (France)

^e INSERM   (France)

^f UNIVERSITY OF BONN   (Germany)

^g CANTONAL HOSPITAL ST GALLEN   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

RYANODINE RECEPTOR 1;

ADDUCTOR MAGNUS MUSCLE; ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CENTRAL CORE DISEASE; CLINICAL ARTICLE; COMPUTER ASSISTED TOMOGRAPHY; CONTROLLED STUDY; FAMILY; GASTROCNEMIUS MUSCLE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC HETEROGENEITY; GLUTEUS MAXIMUS MUSCLE; GLUTEUS MINIMUS MUSCLE; HUMAN; HUMAN TISSUE; MUTATIONAL ANALYSIS; PATHOLOGY; PHENOTYPE; PRIORITY JOURNAL; RECEPTOR GENE; SARTORIUS MUSCLE; SKELETAL MUSCLE; SOLEUS MUSCLE; TIBIALIS ANTERIOR MUSCLE; VASTUS INTERMEDIOLATERALIS MUSCLE;

EID: 33845934128     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.wnl.0000249151.45200.71     Document Type: Article

References (25)

1. Greenfield JG, Cornmann T, Shy GM. The prognostic value of the muscle biopsy in the floppy infant. Brain 1958;81:461-484.
2. Magee KR, Shy GM. A new congenital non-progressive myopathy. Brain 1956;79:610-621.
3. Fardeau M, Tomé F. Congenital myopathies. In: Engel AG, Franzini-Armstrong C, eds. Myology. 2nd ed. New York: McGraw-Hill, 1994:1500-1504.
4. Romero NB, Monnier N, Viollet L, et al. Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia. Brain 2003;126:2341-2349.
5. De Cauwer H, Heytens L, Martin JJ. Workshop report of the 89th ENMC International Workshop: Central Core Disease, 19th-20th January 2001, Hilversum, the Netherlands. Neuromuscul Disord 2002;12:588-595.
6. Monnier N, Romero NB, Lerale J, et al. Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor. Hum Mol Genet 2001;10:2581-2592.
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;13:151-157.
8. 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 muscle ryanodine receptor. Hum Mol Genet 2000;9:2599-2608.
9. 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;10:2879-2887.
10. Ferreiro A, Monnier N, Romero NB, et al. A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene. Ann Neurol 2002;51:750-759.
11. Jungbluth H, Muller CR, Halliger-Keller B, et al. Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores. Neurology 2002;59:284-287.
12. Monnier N, Ferreiro A, Marty I, et al. A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multiminicore disease congenital myopathy with ophthalmoplegia. Hum Mol Genet 2003;12:1171-1178.
13. Fananapazir L, Dalakas MC, Cyran F, et al. Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy. Proc Natl Acad Sci USA 1993;90:3993-3997.
14. Ferreiro A, Quijano-Roy S, Pichereau C, et al. Mutations of the seleno-protein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet 2002;71:739-749.
15. Kaindl AM, Ruschendorf F, Krause S, et al. Missense mutations of ACTA1 cause dominant congenital myopathy with cores. J Med Genet 2004;41:842-848.
16. Romero NB, Nivoche Y, Lunardi J, et al. Malignant hyperthermia and central core disease: analysis of two families with heterogeneous clinical expression. Neuromuscul Disord 1993;3:547-551.
17. Fischer D, Walter MC, Kesper K, et al. Diagnostic value of muscle MRI in differentiating LGMD2I from other LGMDs. J Neurol 2005;252:538-547.
18. Romero NB, Herasse M, Monnier N, et al. Clinical and histopathological aspects of Central Core Disease associated and non-associated with RYR1 locus. Acta Myol 2005:70-73.
19. Bulcke JA, Termote JL, Palmers Y, et al. Computed tomography of the human skeletal muscular system. Neuroradiology 1979;17:127-136.
20. Hawley RJ, Schellinger D, O'Doherty DS, et al. Computed tomographic patterns of muscles in neuromuscular diseases. Arch Neurol 1984:383-387.
21. Jungbluth H, Davis MR, Muller C, et al. Magnetic resonance imaging of muscle in congenital myopathies associated with RYR1 mutations. Neuromuscul Disord 2004;14:785-790.
22. Lamminen AE. Magnetic resonance imaging of primary skeletal muscle diseases: patterns of distribution and severity of involvement. Br J Radiol 1990;63:946-950.
23. Mercuri E, Jungbluth H, Muntoni F. Muscle imaging in clinical practice: diagnostic value of muscle magnetic resonance imaging in inherited neuromuscular disorders. Curr Opin Neurol 2005;18:526-537.
24. Mercuri E, Talim B, Moghadaszadeh B, et al. Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD). Neuromuscul Disord 2002;12:631-638.
25. Fischer D, Herasse M, Bitoun M, et al. Characterization of the muscle involvement in dynamin 2 related centronuclear myopathy. Brain 2006;129:1463-1469.