Kearns Sayre Syndrome occurs as a result of large-scale single deletions (or rearrangements) of mitochondrial DNA (mtDNA), which is usually not inherited but occurs spontaneously, probably at the germ-cell level or very early in embryonic development. No disease-modifying therapy is available for ...
Specifically, we analyzed MAM function in isogenic pairs of cybrids (i.e., homoplasmic wild-type (WT) and mutant) derived from patients with two quite different mitochondrial diseases, Kearns-Sayre syndrome (KSS) and maternally-inherited Leigh syndrome (MILS) [22]....
such as Friedreich's ataxia, Leber's Hereditary Optic Neuropathy, Kearns-Sayre Syndrome, and mitochondrial myopathy, encephalopathy, lactacidosis, stroke (MELA... ガイ エム. ミラー,シドニー エム. ヘクト 被引量: 0发表: 2016年 Deletion of the yeast homologue of the human gene associated wit...
Woo-Jin KwonDepartment of Anesthesiology and Pain MedicineSeung-Uk BangSae-Cheol OhJung-Woo Shimchinese medical journalKwon WJ, Bang SU, Oh SC, Shim JW. Peripheral nerve block is safely administered in a patient with Kearns‑Sayre syndrome. Chin Med J 2016;129:1251‑2. ...
Oh Sae-CheolThe Catholic University of KoreaShim Jung-WooSeoul中华医学杂志:英文版Kwon WJ, Bang SU, Oh SC, Shim JW. Peripheral nerve block is safely administered in a patient with Kearns‑Sayre syndrome. Chin Med J 2016;129:1251‑2. doi: 10.4103/0366‑6999.181971....
Manifestations lead from isolated mitochondrial myopathy to chronic progressive external ophthalmoparesis and Kearns-Sayre syndrome. In contrast to many other mitochondrial disorders, diagnosis still requires the morphological and genetic workup of a muscle biopsy which also is very helpful in differential...
Spinocerebellar ataxia type 7 mimicking Kearns-Sayre syndrome: a clinical diagnosis is desirable. Journal of the Neurological Sciences . 2008; 264 (1-2):173–176.Surya N,Harold G. Spinocerebellar ataxia type 7 mimicking Kearns Sayre syndrome:A clinical diagnosis is desirable[J].Journal of the ...
In this letter, we further describe spinal cord involvement in Kearns-Sayre Syndrome and explore other clinical associations, including cardiac disease.doi:10.1007/s00234-020-02593-8Luca PasquiniGuarnera AlessiaMaria Camilla Rossi EspagnetAntonio Napolitano...