P5.51 Evaluation of standardized protein pattern of skeletal muscle fibers via laser microdissection
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چکیده
lemmal and intermyofibrillar accumulation of glycogen. There was no lactate increase during the grip test, and grip strength was reduced to less than one third of normal strength. An in vitro glycogenolysis/glycolysis study was performed on muscle and revealed a metabolic block below fructose 6 phosphate. PFK activity in muscle was totally absent. A new homozygous mutation was detected in PFKM gene (c.165T > A) inducing a premature stop codon (p.Tyr55X) probably responsible for a precocious mRNA degradation (mRNA decay phenomenon). Earlyonset fixed muscle weakness may be a predominant clinical feature of PFK deficiency. Vacuolar myopathy with polysaccharide deposits remains an important morphological hallmark of this rare muscle glycogenosis.
منابع مشابه
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