CareLit · DOI-Nachweis · Aktuelle Neurologie
Biochemical and molecular genetic identification of patients with phosphoglycerate mutase deficiency
DOI 10.1055/s-0028-1086648
Bibliografische Angaben
Nachweis in CareLit
Autor:innenM Knape, P.R Joshi, S Zierz, M Deschauer
ZeitschriftAktuelle Neurologie
Ausgabe09/2008
Jahrgang / SeitenNicht angegeben
Kernaussage aus der Literatur
Abstract-Vorschau
Phosphoglycerate mutase (PGAM) deficiency is an autosomal recessive glycogenosis (type X) characterised by exercise induced cramps, myalgia, and myoglobinuria. Myohistological features are glycogen deposition and tubular aggregates. Biochemically there is low muscle PGAM activity (most patients below 10%) but few manifesting heterozygotes with 50% activity are reported. Molecular genetic investigations have revealed…
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Zitierempfehlung
M Knape, P.R Joshi, S Zierz, M Deschauer (2008) Biochemical and molecular genetic identification of patients with phosphoglycerate mutase deficiency. Aktuelle Neurologie (09). https://doi.org/10.1055/s-0028-1086648
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