Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.

Abstract excerpt

Mutations in the human phosphofructokinase muscle subunit gene (PFKM) are known to cause myopathy classified as glycogenosis type VII (Tarui disease). Previously described molecular defects include base substitutions altering encoded amino acids or resulting in abnormal splicing. We report a mutation resulting in phosphofructokinase deficiency in three patients from an Ashkenazi Jewish family. Using a reverse...

Topics

• Aged
• Amino Acid Sequence
• Base Sequence
• Codon
• DNA Primers
• Exons
• Female
• Frameshift Mutation
• Genotype
• Glycogen Storage Disease Type VII