Patient homozygous for a recessive POLG mutation presents with features of MERRF

被引：63

作者：

Van Goethem, G

Mercelis, R

Löfgren, A

Seneca, S

Ceuterick, C

Martin, JJ

Van Broeckhoven, C

机构：

[1] Univ Instelling Antwerp VIB, Dept Mol Genet, B-2610 Antwerp, Belgium

[2] Univ Antwerp Hosp, Div Neurol, Antwerp, Belgium

[3] Univ Antwerp Hosp, Neuromuscular Reference Ctr, Antwerp, Belgium

[4] Univ Instelling Antwerp, Born Bunge Fdn, B-2610 Antwerp, Belgium

[5] Free Univ Brussels, Dept Med Genet, B-1050 Brussels, Belgium

来源：

NEUROLOGY | 2003年 / 61卷 / 12期

关键词：

D O I：

10.1212/01.WNL.0000098997.23471.65

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Both dominant and recessive missense mutations were recently reported in the gene encoding the mitochondrial DNA polymerase gamma (POLG) in patients with progressive external ophthalmoplegia (PEO). The authors report on a patient homozygous for a recessive missense mutation in POLG who presented with a multisystem disorder without PEO. The most prominent features were myoclonus, seizure, and sensory ataxic neuropathy, so the clinical picture overlapped with the syndrome of myoclonus, epilepsy, and ragged red fibers (MERRF).

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页码：1811 / 1813

页数：3

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