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Most nemaline myopathy patients have mutations in the nebulin (NEB) or skeletal muscle alpha-actin (ACTA1) genes. Here we report for the first time three patients with severe nemaline myopathy and mutations of the ACTA1 stop codon: TAG>TAT (tyrosine), TAG>CAG (glutamine) and TAG>TGG (tryptophan). All three mutations will cause inclusion of an additional 47 amino acids, translated from the 3' UTR of the gene, into the mature actin protein. Western blotting of one patient's muscle demonstrated the presence of the larger protein, while expression of one of the other mutant proteins fused to EGFP in C2C12 cells demonstrated the formation of rod bodies.

Original publication

DOI

10.1016/j.nmd.2006.07.018

Type

Journal article

Journal

Neuromuscul Disord

Publication Date

10/2006

Volume

16

Pages

541 - 547

Keywords

3' Untranslated Regions, Actins, Amino Acid Sequence, Amino Acid Substitution, Animals, Cell Line, Child, Preschool, Codon, Terminator, DNA Mutational Analysis, Female, Genetic Predisposition to Disease, Genetic Testing, Genotype, Humans, Infant, Infant, Newborn, Male, Mice, Muscle Fibers, Skeletal, Muscle, Skeletal, Mutation, Myopathies, Nemaline, Recombinant Fusion Proteins