Cáceres-Marzal, Cristina

Early mitochondrial dysfunction in an infant with Alexander disease. [electronic resource] - Pediatric neurology Oct 2006 - 293-6 p. digital

Publication Type: Case Reports; Journal Article

0887-8994

10.1016/j.pediatrneurol.2006.03.010 doi


Alexander Disease--diagnosis
Biopsy
Brain--pathology
Cytochrome-c Oxidase Deficiency--diagnosis
Diagnosis, Differential
Female
Glial Fibrillary Acidic Protein--genetics
Humans
Infant
Lactic Acid--metabolism
Magnetic Resonance Imaging
Mitochondria, Muscle--pathology
Mitochondrial Myopathies--diagnosis
Muscle Hypotonia--diagnosis
Muscle, Skeletal--pathology
Mutation, Missense