AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance

Aims: The homozygous C34-T mutation (Q12X) in the AMPD1 gene encoding the muscle-specific isoform of AMP deaminase (AMPD) is responsible for the vast majority of inherited skeletal muscle AMPD deficiencies. It is controversial whether AMPD deficiency is associated with exercise-induced complaints. Furthermore, an acquired form was proposed in which an underlying neuromuscular disorder additionally lowers the activity of AMPD. Objective: C34-T mutation (homozygous – TT, heterozygous – CT, wildtyp – CC) was screened in 107 healthy blood donors and 294 consecutive patients with skeletal muscle biopsy including 200…