Early-Onset Cataracts, Spastic Paraparesis, and Ataxia Caused by a Novel Mitochondrial tRNA super( Glu) (MT-TE) Gene Mutation Causing Severe Complex I Deficiency: A Clinical, Molecular, and Neuropathologic Study

Mitochondrial respiratory chain disease is associated with a spectrum of clinical presentations and considerable genetic heterogeneity. Here we report molecular genetic and neuropathologic findings from an adult with an unusual manifestation of mitochondrial DNA disease. Clinical features included e...

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Veröffentlicht in:	Journal of neuropathology and experimental neurology 2013-02, Vol.72 (2), p.164-164
Hauptverfasser:	Lax, Nichola Z, Gnanapavan, Sharmilee, Dowson, Sarah J, Alston, Charlotte L, He, Langping, Polvikoski, Tuomo M, Jaros, Evelyn, Yarham, John W, Turnbull, Douglass M, Dean, Andrew F, Taylor, Robert W
Format:	Artikel
Sprache:	eng
Online-Zugang:	Volltext
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