Core-rod myopathy caused by mutations in the nebulin gene.
Romero
N B
NB
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
Lehtokari
V-L
VL
Quijano-Roy
S
S
Monnier
N
N
Claeys
K G
KG
Carlier
R Y
RY
Pellegrini
N
N
Orlikowski
D
D
Barois
A
A
Laing
N G
NG
Lunardi
J
J
Fardeau
M
M
Pelin
K
K
Wallgren-Pettersson
C
C
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
D009124:Muscle Proteins; C035620:nebulin