Core-rod myopathy caused by mutations in the nebulin gene

Neurology

Volumn 73, Issue 14, 2009, Pages 1159-1161

  Romero, Norma Beatriz ^a   Lehtokari, V L ^b   Quijano Roy, S ^c   Monnier, N ^e   Claeys, K G ^a   Carlier, R Y ^d   Pellegrini, N ^e   Orlikowski, D ^e   Barois, A ^c   Laing, N G ^f   Lunardi, J ^e   Fardeau, M ^a   Pelin, K ^b   Wallgren Pettersson, C ^b  

^a SORBONNE UNIVERSITÉ   (France)

^b UNIVERSITY OF HELSINKI   (Finland)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d RAYMOND POINCARÉ HOSPITAL   (France)

^e GRENOBLE UNIVERSITY HOSPITAL   (France)

^f UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

NEBULIN;

ADULT; ARTICLE; CASE REPORT; CENTRAL CORE DISEASE; CLINICAL FEATURE; ELECTROMYOGRAPHY; GENE MUTATION; HUMAN; HUMAN TISSUE; LABORATORY TEST; MALE; MUSCLE BIOPSY; NEMALINE MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL;

EID: 70349755728     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0b013e3181bacf45     Document Type: Article

References (7)

1. Scacheri PC, Hoffman EP, Fratkin JD, et al. A novel ryan-odine receptor gene mutation causing both cores and rods in congenital myopathy. Neurology 2000;55:1689-1696.
2. 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.
3. Gommans IM, Davis M, Saar K, et al. A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions [erratum in 2003;126:2115]. Brain 2003;126:1545-1551. (Pubitemid 36834931)
4. Jungbluth H, Sewry CA, Counsell S, et al. Magnetic resonance imaging of muscle in nemaline myopathy. Neuro-muscul Disord 2004;14:779-784.
5. Lehtokari VL, Pelin K, Sandbacka M, et al. Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Hum Mutat 2006;27:946-956.
6. Pelin K, Hilpelä P, Sewry C, et al. Mutations in the nebu-lin gene associated with autosomal recessive nemaline my-opathy. Proc Natl Acad Sci USA 1999;96:2305-2310.
7. Wallgren-Pettersson C, Lehtokari V-L, Kalimo H, et al. Au-tosomal recessive distal myopathy caused by missense mutations in the nebulin gene. Brain 2007;130:1465-1476.