Article
Lethal hepatopathy and leukodystrophy caused by a novel mutation in MPV17 gene: description of an alternative MPV17 spliced form.
Molecular genetics and metabolism - 1 Jun 2008
Navarro-Sastre Aleix, Martín-Hernández Elena, Campos Yolanda, Quintana Ester, Medina Enrique, de Las Heras Rogelio Simón, Lluch Montserrat, Muñoz Alberto, del Hoyo Pilar, Martín Rebeca, Gort Laura, Briones Paz, Ribes Antonia
Abstract excerpt
It has recently been reported that mutations in MPV17 gene may be causative of mtDNA depletion syndrome (MDS). Patients with this alteration presented with severe liver failure, hypoglycemia, growth retardation and neurological symptoms during the first year of life. We report on the clinical, biochemical and molecular findings of a patient presenting with lethal hepatopathy, polyneuropathy, neurological...
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