[Mutations in dynamin 2 cause dominant centronuclear myopathy]

MeSH terms

• Amino Acid Substitution
• Chromosomes, Human, Pair 19 / genetics*
• Dynamin II / chemistry
• Dynamin II / deficiency
• Dynamin II / genetics*
• Dynamin II / physiology
• Endocytosis
• Genes, Dominant*
• Humans
• Mutation*
• Mutation, Missense
• Myopathies, Structural, Congenital / genetics*
• Open Reading Frames / genetics
• Point Mutation
• Protein Structure, Tertiary / genetics
• Sequence Deletion