2. Academic Validation
  3. POLG mutations in Alpers syndrome

POLG mutations in Alpers syndrome

  • Neurology. 2005 Nov 8;65(9):1493-5. doi: 10.1212/01.wnl.0000182814.55361.70.
K V Nguyen 1,  E Østergaard,  S Holst Ravn,  T Balslev,  E Rubaek Danielsen,  A Vardag,  P J McKiernan,  G Gray,  R K Naviaux
Affiliations

Affiliation

  • 1 Mitochondrial and Metabolic Disease Center, Department of Medicine, University of California, San Diego, CA, USA.
PMID: 16177225 DOI: 10.1212/01.wnl.0000182814.55361.70
Abstract

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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