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Nucleotide sequences of telethonin (TCAP) gene in a patient with LGMD 2G, her brother and a control individual. A G-to-A transition changes TCAP codon 25 sequence from TGG to TGA and results in a predicted substitution of tryptophan with Stop, thus terminating transcription of telethonin at this early point. The patient shows the mutation on both chromosomes and is therefore homozygous for this mutation; the unaffected sibling is heterozygous.
