Neurology · 2005 · 150 citations · 6 references
Life SciencesGeneticsMolecular GeneticsHuman GeneticsMedical GeneticsMitochondrial GeneticsGenetic DisordersMendelian DisordersMitochondrial DiseaseMitochondrial DisordersGenotype-phenotype Correlation In Mitochondrial DiseaseMitochondrial Disease GeneticsMitochondrial Inheritance DisordersMitochondrial Respiratory Chain DefectsMitochondrial SyndromesPathogenic Variant AssociationSkeletal Muscle Physiology
Described are six patients with Alpers syndrome from four unrelated families. Affected individuals harbored the following combinations of POLG mutations: 1) A467T/W1020X, 2) W748S-E1143G/G848S, 3) A467T/A467T, and 4) A467T/G848S. Homozygosity for the A467T allele in one patient was associated with a later age at onset. Mitochondrial respiratory chain studies in skeletal muscle were normal in each case. Nine combinations of mutant POLG alleles that cause Alpers syndrome are summarized.
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<i>POLG</i> mutations in neurodegenerative disorders with ataxia but no muscle involvement
G. Van Goethem, Petri Luoma, Maria Rantamäki et al. · Neurology · 2004 · 260 citations
Life Sciences, Genetics, Neurology +16
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Leonardo Salviati, Sabrina Sacconi, Michelangelo Mancuso et al. · Annals of Neurology · 2002 · 162 citations