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Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2

Lookup NU author(s): Joanna Stewart, Dr Gavin Hudson, Professor Hanns Lochmuller, Professor Patrick Chinnery, Professor Rita HorvathORCiD


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Polymerase gamma 1 (POLG) mutations are a frequent cause of both autosomal dominant and recessive complex neurological phenotypes. In contrast, only a single pathogenic mutation in one patient was reported in POLG2 so far. Here we describe a 62-year-old woman, carrying a novel heterozygous sequence variant in the POLG2 gene. She developed bilateral ptosis at 30 years of age, followed by exercise intolerance, muscle weakness and mild CK increase in her late forties. Muscle histology and respiratory chain activities were normal. Southern blot and long range PCR detected multiple mtDNA deletions, but no depletion in muscle DNA. Sequencing of POLG, PEO1, ANT1, OPA1 and RRM2B showed normal results. A novel heteroallelic 24 bp insertion (c.1207_1208ins24) was detected in POLG2. This 24 bp insertion into exon 7 causes missplicing and loss of exon 7 in myoblast cDNA. We did not detect POLG2 mutations in 62 patients with multiple mtDNA deletions in muscle DNA, suggesting that POLG2 mutations may represent a rare cause of autosomal dominant PEO.

Publication metadata

Author(s): Walter MC, Czemin B, Muller-Ziermann S, Bulst S, Stewart JD, Hudson G, Schneiderat P, Abicht A, Holinski-Feder E, Lochmuller H, Chinnery PF, Klopstock T, Horvath R

Publication type: Article

Publication status: Published

Journal: Journal of Neurology

Year: 2010

Volume: 257

Issue: 9

Pages: 1517-1523

Print publication date: 20/04/2010

ISSN (print): 0340-5354

ISSN (electronic): 1432-1459

Publisher: Dr. Dietrich Steinkopff Verlag


DOI: 10.1007/s00415-010-5565-9


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Funder referenceFunder name
German ministry of education and research (BMBF, Bonn, Germany)
MRC Centre for Neuromuscular Disease
BH090164Academy of Medical Sciences
HO 2505/2-1Deutsche Forschungsgemeinschaft
RES0211/7262Newcastle upon Tyne Hospitals NHS Charity