CareLit · DOI-Nachweis · Aktuelle Neurologie
AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance
DOI 10.1055/s-2006-953317
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Nachweis in CareLit
Autor:innenF. Hanisch, P. Joshi, S. Zierz
ZeitschriftAktuelle Neurologie
Ausgabe09/2006
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
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 activit…
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Zitierempfehlung
F. Hanisch, P. Joshi, S. Zierz (2006) AMP deaminase deficiency in skeletal muscle is unlikely to be of clinical relevance. Aktuelle Neurologie (09). https://doi.org/10.1055/s-2006-953317
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