Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibres due to a DNM2 mutation.
Norma Beatriz
NB
Romero
Jorge A
JA
Bevilacqua
Anders
A
Oldfors
Michel
M
Fardeau
D002467:Cell Nucleus / Q000473:pathology / Q000648:ultrastructure; D022082:Cellular Structures / Q000473:pathology* / Q000648:ultrastructure; D034285:Dynamin II / Q000235:genetics*; D006801:Humans; D006984:Hypertrophy / Q000235:genetics / Q000473:pathology; D008854:Microscopy, Electron; D018485:Muscle Fibers, Skeletal / Q000473:pathology / Q000648:ultrastructure; D018482:Muscle, Skeletal / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D020914:Myopathies, Structural, Congenital / Q000235:genetics* / Q000473:pathology*; D009503:Neutropenia / Q000235:genetics* / Q000473:pathology; D009626:Terminology as Topic
D034285:Dynamin II