Article
Cranial nerve and cervical root enhancement in an infant with polymerase gamma mutation mitochondrial disease.
Pediatric neurology - 1 Nov 2014
Horst Deanna M, Ruess Lynne, Rusin Jerome A, Bartholomew Dennis W
Abstract excerpt
BACKGROUND: Nuclear polymerase gamma (POLG) mutations are the most common cause of inherited mitochondrial disease. POLG mutation diseases have a broad spectrum of clinical manifestations; the lethal infantile form is myocerebrohepatopathy spectrum. PATIENT: A 4-month-old boy was referred for poo...
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