title: Core-rod myopathy caused by mutations in the nebulin gene.
authors.affiliation: 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
authors.forename: N B
authors.initials: NB
authors.lastname: Romero
authors.forename: V-L
authors.initials: VL
authors.lastname: Lehtokari
authors.forename: S
authors.initials: S
authors.lastname: Quijano-Roy
authors.forename: N
authors.initials: N
authors.lastname: Monnier
authors.forename: K G
authors.initials: KG
authors.lastname: Claeys
authors.forename: R Y
authors.initials: RY
authors.lastname: Carlier
authors.forename: N
authors.initials: N
authors.lastname: Pellegrini
authors.forename: D
authors.initials: D
authors.lastname: Orlikowski
authors.forename: A
authors.initials: A
authors.lastname: Barois
authors.forename: N G
authors.initials: NG
authors.lastname: Laing
authors.forename: J
authors.initials: J
authors.lastname: Lunardi
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
authors.forename: K
authors.initials: K
authors.lastname: Pelin
authors.forename: C
authors.initials: C
authors.lastname: Wallgren-Pettersson
mesh_terms: D000328:Adult; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008854:Microscopy, Electron; D018485:Muscle Fibers, Skeletal / Q000473:pathology*; D009124:Muscle Proteins / Q000235:genetics*; D009154:Mutation; D017696:Myopathies, Nemaline / Q000235:genetics* / Q000473:pathology
chemical_list: D009124:Muscle Proteins; C035620:nebulin