Nemaline and myotubular myopathies.

Abstract excerpt

Nemaline myopathy is caused by mutations in one of at least six different genes. The clinical picture also varies widely, in terms of the grade and the distribution of muscle weakness. In familial cases, autosomal-recessive inheritance is more common than autosomal-dominant inheritance, and in some patients the disorder is caused by new dominant mutations. Because of the genetic heterogeneity and the large size...

Topics

• Child
• Child, Preschool
• Chromosomes, Human, X
• Gene Expression
• Genotype
• Humans
• Muscle Fibers, Skeletal
• Muscle, Skeletal
• Myopathies, Nemaline
• Myopathies, Structural, Congenital
• Phenotype
• Point Mutation