A Case of Reversible Infantile Respiratory Chain Deficiency Presenting With Hypotonia, Hyperammonemia, and Failure to Thrive

Reversible infantile respiratory chain deficiency, previously termed reversible infantile cytochrome c oxidase (COX) deficiency myopathy, is a rare mitochondrial disorder that is characterized by severe hypotonia and generalized muscle weakness in infancy that is associated with lactic acidosis. Aff...

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Veröffentlicht in:	Pediatric and developmental pathology 2019-12, Vol.22 (6), p.590-593
Hauptverfasser:	Guerrero, Jessenia C, Pedro, Helio, Parisotto, Sarah, Heller, Debra, Baisre-de Leon, Ada
Format:	Artikel
Sprache:	eng
Schlagworte:	Cytochrome-c Oxidase Deficiency - complications Cytochrome-c Oxidase Deficiency - diagnosis Cytochrome-c Oxidase Deficiency - pathology Cytochrome-c Oxidase Deficiency - physiopathology Failure to Thrive - diagnosis Failure to Thrive - etiology Female Humans Hyperammonemia - diagnosis Hyperammonemia - etiology Infant Muscle Hypotonia - diagnosis Muscle Hypotonia - etiology Muscle Hypotonia - pathology
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