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Page 1
Neuromuscular implications in CADASIL.
Finsterer J. Finsterer J. Cerebrovasc Dis. 2007;24(5):401-4. doi: 10.1159/000108428. Epub 2007 Sep 18. Cerebrovasc Dis. 2007. PMID: 17878719 Review.
Neurological diagnostic workup in these patients revealed weakness, wasting, reduced/exaggerated tendon reflexes, abnormal nerve conduction and electromyography, muscle biopsy with ragged red muscle fibers, reduced COX staining, decreased complex I res …
Neurological diagnostic workup in these patients revealed weakness, wasting, reduced/exaggerated tendon reflexes, abnormal nerve conduction …
Coordinate induction of energy gene expression in tissues of mitochondrial disease patients.
Heddi A, Stepien G, Benke PJ, Wallace DC. Heddi A, et al. J Biol Chem. 1999 Aug 13;274(33):22968-76. doi: 10.1074/jbc.274.33.22968. J Biol Chem. 1999. PMID: 10438462 Free article.
The more significant coordinated expression was found in muscle from patients with the MELAS, myoclonic epilepsy with ragged red fibers, and chronic progressive external ophthalmoplegia deletion syndromes, with ragged red muscle fibers and mitochondria …
The more significant coordinated expression was found in muscle from patients with the MELAS, myoclonic epilepsy with ragged red fibers, and …
Recurrent pancreatitis as a manifestation of multisystem mitochondrial disorder.
Finsterer J. Finsterer J. Minerva Gastroenterol Dietol. 2007 Sep;53(3):285-9. Minerva Gastroenterol Dietol. 2007. PMID: 17912191
In a 57-year-old Caucasian male mitochondrial disorder was diagnosed at the age of 49 years upon epilepsy with generalized and focal seizures, cognitive decline, migraine, mitochondrial myopathy, polyneuropathy, diabetes mellitus, hypokalie-mia, hyperlipidemia, atrial fibrillatio …
In a 57-year-old Caucasian male mitochondrial disorder was diagnosed at the age of 49 years upon epilepsy with generalized and focal seizure …
Kearns-Sayre syndrome: electro-vectorcardiographic evolution for left septal fascicular block of the his bundle.
Riera AR, Kaiser E, Levine P, Schapachnik E, Dubner S, Ferreira C, Ferreira Filho C, de Luna AB, Zhang L. Riera AR, et al. J Electrocardiol. 2008 Nov-Dec;41(6):675-8. doi: 10.1016/j.jelectrocard.2008.04.001. Epub 2008 May 19. J Electrocardiol. 2008. PMID: 18490026
The Kearns-Sayre syndrome is a neuromyopathic disorder associated with mitochondrial abnormalities and characterized by the triad of chronic external ophthalmoplegia, atypical pigmentary retinopathy, and progressive conduction system disorders. Ragged red muscle …
The Kearns-Sayre syndrome is a neuromyopathic disorder associated with mitochondrial abnormalities and characterized by the triad of chronic …
Clinical correlations of partial deficiency of lipoamide dehydrogenase.
Kark RA, Rodriguez-Budelli MM. Kark RA, et al. Neurology. 1979 Jul;29(7):1006-13. doi: 10.1212/wnl.29.7.1006. Neurology. 1979. PMID: 572926
Reduced activities of lipoamide dehydrogenase (LAD) relative to cytochrome oxidase have been found in 12 or 26 patients with inherited ataxias. One of the 12 patients had adult-onset ataxia plus ragged-red muscle fibers. The other 11 had Friedreich syn …
Reduced activities of lipoamide dehydrogenase (LAD) relative to cytochrome oxidase have been found in 12 or 26 patients with inherited ataxi …