Reference : Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase ...
Scientific journals : Article
Life sciences : Genetics & genetic processes
http://hdl.handle.net/2268/87744
Intermittent peripheral weakness as the presenting feature of pyruvate dehydrogenase deficiency.
English
DEBRAY, François-Guillaume mailto [> > > >]
Lambert, Marie [> > > >]
Vanasse, Michel [> > > >]
Decarie, Jean-Claude [> > > >]
Cameron, Jessie [> > > >]
Levandovskiy, Valeriy [> > > >]
Robinson, Brian H [> > > >]
Mitchell, Grant A [> >]
2006
European Journal of Pediatrics
165
7
462-466
Yes (verified by ORBi)
International
0340-6199
Germany
[en] Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Male ; Muscle Weakness/etiology ; Pyruvate Dehydrogenase Complex Deficiency Disease/complications/diagnosis
[en] Two unrelated children presenting with episodic isolated peripheral weakness were found to have pyruvate dehydrogenase (PDH) deficiency (OMIM 312170) due to previously undescribed mutations (Pro250Thr, Arg88Cys) in the gene for the E1alpha subunit (PDHA1). Taken in context with the literature, these patients suggest that acute weakness initially resembling Guillain-Barre syndrome is a potentially reversible and probably underdiagnosed manifestation of PDH deficiency and that peripheral nerve function should be evaluated in PDH-deficient patients.
http://hdl.handle.net/2268/87744
10.1007/s00431-006-0104-5

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