Thiamine-Responsive Congenital Lactic Acidosis Without MC
Pediatric Neurology Briefs, 2005 Six infants with thiamine-responsive congenital lactic acidosis (CLA), normal pyruvate dehydrogenase complex activity, and no evidence of mitochondrial encephalomyopathy, are reported from Tottori University, Yonago; National Children’s Medical Center ...
J Gordon Millichap
doaj +1 more source
Molecular Genetics and Metabolism Reports, 2015 Mitochondrial disease involving complex II is rare among respiratory chain deficiencies and its genetic cause remains often unknown. Two main clinical presentations are associated with this biochemical defect: mitochondrial encephalomyopathy and ...
Anna Ardissone +5 more
doaj +1 more source
Non-epileptic myoclonus and mitochondrial encephalomyopathy
Arquivos de Neuro-Psiquiatria, 1989 Two brothers presented to us with a progressive myoclonic syndrome with slight cerebellar symptoms. Neurological examination disclosed moderate cerebellar signs and pale optic discs; asymmetric, asynchronous and arhythmic myoclonus, an arthresthesic ...
A. Cukiert +11 more
doaj +1 more source
PLoS ONE, 2011 Numerous mitochondrial DNA mutations cause mitochondrial encephalomyopathy: a collection of related diseases for which there exists no effective treatment.
Alicia M Celotto +3 more
doaj +1 more source
Modeling mitochondrial encephalomyopathy in Drosophila
Neurobiology of Disease, 2010 Mitochondrial encephalomyopathies are disturbingly complex and devastating diseases, reflecting the underlying importance of the affected organelle.
Michael J. Palladino
doaj +1 more source
[A case of mitochondrial encephalomyopathy (MELAS)].
Nihon Jinzo Gakkai shi, 1996 Mitochondrial encephalomyopathy is a hereditary syndrome showing impairment of muscle and the central nervous system. In this disorder, the following three syndromes have been identified on the basis of characteristic symptoms: Kearns-Sayre syndrome (KSS), mitochondrial encephalomyopathy with lactic acidosis, and stroke-like episodes (MELAS), and ...
SUZUKI, Tori +3 more
openaire +2 more sources
Two novel SUCLA2 variants cause mitochondrial DNA depletion syndrome, type 5 in two siblings
Frontiers in NeurologyMitochondrial DNA depletion syndrome (MDS), characterized by succinate-CoA ligase deficiency and loss of mitochondrial DNA (mtDNA), is caused by specific variants in nuclear genes responsible for mtDNA maintenance.
Xiaohuan Zhang +12 more
doaj +1 more source
The treatment of mitochondrial myopathies and encephalomyopathies
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 1995 This paper briefly summarizes the results of a long-term, open pharmacotherapy trial in 16 patients with well-characterized mitochondrial disease. Outcome measures included repeated clinical evaluation, 31P-NMR spectroscopy and near-infrared spectroscopy.
openaire +2 more sources
Gay Fathers, Triplet Children: Trifecta Perfecta; Tribute to Dr Alec Roy / Twin Research Reviews: Twin Study of Dog Ownership; Twinning Rates in Awassi Ewes; MZ Male Twins with Mitochondrial Encephalomyopathy; Twin Study of Meditation / Human Interest Stories: Twins with Unrelated Parental Sets; Twins Born in Different Years; Valedictorian-Salutatorian Pair; Annual Twins Days Festival; FBI Identical Twin Identification Dilemmas; Identical Twin Doctors [PDF]
Nancy L. Segal
openalex +1 more source
New Diagnosis of Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes Following First Live Birth in a Woman With an MT-TL1 m.3260A>T Mutation [PDF]
Taylor S. Hulahan +3 more
openalex +1 more source