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Titel:

Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA).

Dokumenttyp:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Horvath, R; Abicht, A; Holinski-Feder, E; Laner, A; Gempel, K; Prokisch, H; Lochmüller, H; Klopstock, T; Jaksch, M
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...     »
Zeitschriftentitel:
J Neurol Neurosurg Psychiatry
Jahr:
2006
Band / Volume:
77
Heft / Issue:
1
Seitenangaben Beitrag:
74-6
Sprache:
eng
Volltext / DOI:
doi:10.1136/jnnp.2005.067041
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/16361598
Print-ISSN:
0022-3050
TUM Einrichtung:
Institut für Humangenetik
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