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Article

Protean phenotypic features of the A3243G mitochondrial DNA mutation.

Archives of neurology - 1 Jan 2009

Kaufmann Petra, Engelstad Kristin, Wei Ying, Kulikova Romana, Oskoui Maryam, Battista Vanessa, Koenigsberger Dorcas Y, Pascual Juan M, Sano Mary, Hirano Michio, DiMauro Salvatore, Shungu Dikoma C, Mao Xiangling, De Vivo Darryl C

Abstract excerpt

OBJECTIVE: To describe the spectrum of clinical symptoms, signs, and laboratory features associated with A3243G, a mitochondrial DNA point mutation that affects multiple organs with varying severity, making the diagnosis and treatment of these patients complex. DESIGN: Cohort study. SETTING: Columbia University Medical Center. PARTICIPANTS: A cohort of 123 matrilineal relatives from 45 families, including 45...

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Identifiers

PMID: 19139304
DOI: 10.1001/archneurol.2008.526
PMCID: PMC10424500

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