Core-rod myopathy caused by mutations in the nebulin gene. Neurology [Neurology] Journal article | | Title | Core-rod myopathy caused by mutations in the nebulin gene. | | Author(s) | Romero NB, Lehtokari VL, Quijano-Roy S, Monnier N, Claeys KG, Carlier RY, Pellegrini N, Orlikowski D, Barois A, Laing NG, Lunardi J, Fardeau M, Pelin K, Wallgren-Pettersson C | | Institution | UPMC Univ Paris 06, INSERM U974, Institut de Myologie, APHP, Groupe Hospitalier Universitaire Pitié-Salpêtrière, Centre National de Référence des Maladies Neuromusculaires Paris Est, Paris, France. nb.romero@institut-myologie.org | | Source | Neurology 2009 Oct 6; 73(14):1159-61. | | MeSH | Adult
Humans
Magnetic Resonance Imaging
Male
Microscopy, Electron
Muscle Fibers, Skeletal
Muscle Proteins
Mutation
Myopathies, Nemaline
| | Language | eng | | Pub Type(s) | Case Reports
Journal Article
Research Support, Non-U.S. Gov't
| | PubMed ID | 19805734 |
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