[Mutations in dynamin 2 cause dominant centronuclear myopathy].
Bitoun
Marc
M
Romero
Norma B
NB
Guicheney
Pascale
P
D019943:Amino Acid Substitution; D002888:Chromosomes, Human, Pair 19 / Q000235:genetics*; D034285:Dynamin II / Q000737:chemistry / Q000172:deficiency / Q000235:genetics* / Q000502:physiology; D004705:Endocytosis; D005799:Genes, Dominant; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D020914:Myopathies, Structural, Congenital / Q000235:genetics*; D016366:Open Reading Frames / Q000235:genetics; D017354:Point Mutation; D017434:Protein Structure, Tertiary / Q000235:genetics; D017384:Sequence Deletion
D034285:Dynamin II