A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis

Autor: Ad M. Stadhouders, Jan A.M. Smeitink, R. C. A. Sengers, G. J. van Ekeren

Publikováno v: European Journal of Pediatrics. 152:255-259

The objectives of this study were to describe the course of two forms of an hereditary syndrome characterised by congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis. We also sought to determine clinical, physi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::83fd5704e8cd5fe57b6b934ee815fcc3
https://doi.org/10.1007/bf01956157

Successful Treatment of Pure Myopathy, Associated With Complex I Deficiency, With Riboflavin and Carnitine

Autor: Ad M. Stadhouders, Rob C.A. Sengers, Fons J. M. Gabreëls, Willie O. Renier, Wim Ruitenbeek, P. L. J. A. Bernsen

Publikováno v: Archives of Neurology. 48:334-338

• We describe a 6-year-old boy who presented with progressive muscle weakness. Additional investigations revealed the existence of a myopathy and a pure motor neuropathy. Biochemical studies in muscle tissue showed a defect of NADH dehydrogenase (c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::45774f612cec20ad841e7051b0c5c8bf
https://doi.org/10.1001/archneur.1991.00530150106028

Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins

Autor: Rob C.A. Sengers, Ad M. Stadhouders, Frans C. S. Ramaekers, Peter G. Barth, Henk J. ter Laak, Paul H.K. Jap, Peter F.M. van der Ven, Ikuya Nonaka

Publikováno v: The Journal of Neuroscience, 129, 199-213
The Journal of Neuroscience, 129, pp. 199-213
Journal of the neurological sciences, 129(2), 199-213. Elsevier
Journal of the Neurological Sciences, 129, 199-213
Journal of the Neurological Sciences, 129, 2, pp. 199-213

We have studied the expression and distribution patterns of the intermediate filament proteins desmin and vimentin, the sarcomere components titin, nebulin and myosin, the basement membrane constituents collagen type IV and laminin, and the reticular

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::74a7836507da0416a1ca9fad20429dd3
http://hdl.handle.net/2066/22265

Mitochondrial creatine kinase: a major constituent of pathological inclusions seen in mitochondrial myopathies

Autor: Ad M. Stadhouders, Theo Wallimann, Hans M. Eppenberger, Paul H.K. Jap, Hanspeter Winkler

Overaccumulation of abnormally organized mitochondria in so-called "ragged-red" skeletal muscle fibers is a morphological hallmark of mitochondrial myopathies, in particular of mitochondrial encephalomyopathies. Characteristic for the abnormal mitoch

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::99eb4be2135f3ddb592aab9cec7b4c3c
https://europepmc.org/articles/PMC43937/

Mitochondrial creatine kinase containing crystals, creatine content and mitochondrial creatine kinase activity in chronic progressive external ophthalmoplegia

Autor: Ad M. Stadhouders, J. A. M. Smeitink, Wim Ruitenbeek, H.J. ter Laak, Ron A. Wevers, Frans J.M. Trijbels, R. C. A. Sengers

Publikováno v: Neuromuscular disorders : NMD. 2(1)

Mitochondrial crystals containing mitochondrial creatine kinase (Mi-CK) protein were described recently. From in vitro studies it has been suggested that alterations in creatine concentration are connected to the occurrence of these crystals. In the

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3ef63c898a29244ca1a8f5029b7be3c
https://pubmed.ncbi.nlm.nih.gov/1525556