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Fatal infantile cardiopathy caused by phosphorylase b kinase deficiency

✍ Scribed by Serenella Servidel; Leon A. Metlay; Joshua Chodosh; Salvatore DiMauro


Book ID
119463257
Publisher
Elsevier Science
Year
1988
Tongue
English
Weight
882 KB
Volume
113
Category
Article
ISSN
1097-6833

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A 3-month-old female infant had profound generalized weakness, de Toni-Fanconi-Debre syndrome, and lactic acidosis. She required assisted ventilation and died at the age of 8 months. Muscle biopsy showed accumulation of mitochondria, glycogen, and lipid droplets. Histochemical reaction and immunocyt