Results 91 to 100 of about 376,481 (188)

Mitochondrial Encephalomyopathy

Mitochondrial encephalomyopathy is a genetic disease caused by mutations in mitochondrial genes (mitochondrial DNA, mtDNA). Different symptoms occur due to mitochondrial or biochemical changes that occur in different tissues.
qizi, B. M. (Boysariyeva)
core  

Screening of common point-mutations and discovery of new T14727C change in mitochondrial genome of Vietnamese encephalomyopathy patients

, 2016
Vietnamese patients (106) tentatively diagnosed with encephalomyopathy were screened for the presence of 15 common point mutations in mitochondria using PCR-RFLP.
L.V., Nguyen, Lieu Van, Phan, T. N., Truong, Hue Thi, V.A., Pham, Van Anh, Nguyen, Van Anh Thi   +4 more
core   +1 more source

Mitochondrial neurogastrointestinal encephalomyopathy - Diagnostic features of two patients

, 2002
Mitochondrial neurogastrointestinal encephalomyopathy is a rare. multisystem disorder characterized by gastrointestinal dysmotility, ptosis' neurologic findings (e.g., peripheral neuropathy), leukoencephalopathy, and thin body habitus.
Ozden, A, Bahar, K, Tan, E, Cetinkaya, H, Aydin, F, Erdem, S, Soykan, I   +6 more
core   +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

ePosters Virtual

European Journal of Neurology, Volume 33, Issue S1, June 2026.
wiley   +1 more source

Mitochondrial encephalomyopathy lactic acidosis and strokelike episodes mimicking occipital idiopathic epilepsy.

, 2009
We report on a 19-year-old man with a 9-year history of occipital seizures characterized by deviation of the eyes and tonic ipsilateral turning of the head during sleep, initially diagnosed as idiopathic childhood occipital epilepsy, Gastaut type.
SCARPELLI, Marina, Zamponi N., Cesaroni E., Scarpelli M., Polonara G., POLONARA, GABRIELE, Zeviani M., ZAMPONI, NELIA   +7 more
core   +1 more source

Prolonged misdiagnosis of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: A case report. [PDF]

Medicine (Baltimore), 2023
Wang Y, Zhang W, Jiang X.
europepmc   +1 more source

Loss of TMEM65 in mice causes mitochondrial disease mediated by mitochondrial Ca2+

Nature Communications
Transmembrane protein 65 (TMEM65) depletion in a patient caused severe mitochondrial encephalomyopathy, highlighting its clinical importance. Recent studies show TMEM65 acts as a mitochondrial Na+/Ca2+ exchanger in vitro.
Yingfan Zhang, Hailey A. Parry, Laura Reyes, Alex Shamoun, Junhui Sun, Chengyu Liu, Danielle Springer, Audrey Noguchi, Sachiko Nakamori, Angel M. Aponte, Jeeva Munasinghe, Raul Covian, Elizabeth Murphy, Brian Glancy   +13 more
doaj   +1 more source

Long-Term Safety of Systemic Ozone Therapy in a Patient With Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS). [PDF]

Cureus, 2023
Romanello D, Rotunno S, Martinelli M.
europepmc   +1 more source

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes syndrome: a case report from Nepal. [PDF]

Ann Med Surg (Lond), 2023
Subedi RC, Paudel R, Paudel S, Thapa L, Phuyal S, Kharbuja N, Adhikari A.   +6 more
europepmc   +1 more source