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scopus: 36167004900

Jongen, E.

( E. Jongen)


mutation patient p.a 467t mutation polg mutations carrier mitochondrial variant family polymerase recessive table domain failure feature epilepsy syndrome genotype –phenotype correlations novel alpers syndrome liver failure family details liver sister genet muscle mtdna ataxia .1399g p.g 517v mutation compound disease mtdna deletions zeviani m deletion sodium valproate recessive mutations p.a 467t mutations van broeckhoven c alper index ophthalmoplegia status epilepticus parent activity article sequence adult valproate jmg.bmj.com study ptosi polymerase domain brother report combination effect status detail inheritance spectrum downloaded neurology group.bmj.com taylor rw protein 925argfsx function polg mutation gamma copeland wc p.a 467t sodium retardation onset novel polg mutations netherland polyneuropathy pathogenicity polg mutation carriers cataract




1 Most Recent Publications

The unfolding clinical spectrum of POLG mutations (Article)
Blok, M.J. Bosch, B.J. van den Coo, I.F.M. de Smeets, H.J. Jongen, E. Hendrickx, A. Die-Smulders, C. de Hoogendijk, J.E. Brusse, E. Visser, M. de Poll-The, B.T. Bierau, J.
2009-11-01