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Document type:
journal article 
Author(s):
Horváth, R; Abicht, A; Holinski-Feder, E; Laner, A; Gempel, K; Prokisch, H; Lochmüller, H; Klopstock, T; Jaksch, M 
Title:
Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA). 
Abstract:
Detailed clinical, neuroradiological, histological, biochemical, and genetic investigations were undertaken in a child suffering from Leigh syndrome. The clinical symptoms started at age five months and led to a severe progressive neurodegenerative disorder causing epilepsy, psychomotor retardation, and tetraspasticity. Biochemical measurement of skeletal muscle showed a severe decrease in mitochondrial complex II. Sequencing of SDHA revealed compound heterozygosity for a nonsense mutation in ex...    »
 
Journal title abbreviation:
J Neurol Neurosurg Psychiatry 
Year:
2006 
Journal volume:
77 
Journal issue:
Pages contribution:
74-6 
Language:
eng 
Print-ISSN:
0022-3050 
TUM Institution:
Institut für Humangenetik