Results 81 to 90 of about 376,481 (188)

Diagnosis of adult-onset MELAS syndrome in a 63-year-old patient with suspected recurrent strokes – a case report

BMC Neurology, 2019
Background Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial cytopathy caused by mutations in mitochondrial DNA. Clinical manifestation is typically before the age of 40. Case presentation We present the
Tim Sinnecker, Michaela Andelova, Michael Mayr, Stephan Rüegg, Michael Sinnreich, Juergen Hench, Stephan Frank, André Schaller, Christoph Stippich, Jens Wuerfel, Leo H. Bonati   +10 more
doaj   +1 more source

Gastrointestinal Pseudo‐Obstruction Is Not an Uncommon Phenotypic Manifestation of POLG1 Variants

European Journal of Neurology, Volume 33, Issue 6, June 2026.
Josef Finsterer
wiley   +1 more source

X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy. [PDF]

, 2007
Contains fulltext : 51594.pdf (Publisher’s version ) (Closed access)OBJECTIVE: Mitochondrial complex I deficiency is the commonest diagnosed respiratory chain defect, being genetically heterogeneous.
López-Laso, Eduardo, Rodenburg, R.J.T., Smeitink, J.A.M., Ruiz-Falco, Maria L., Martin, M.A., Ugalde, Cristina, Martín, Miguel Ángel, Smeitink, Jan A., Briones, Paz, Arenas, Joaquín, Rodenburg, Richard J., Smeets, R., Briones, P., Arenas, J., Smeets, Roel, Ruiz-Falco, M.L., Ugalde, C., Lopez-Laso, E., Fernandez-Moreira, D., Fernández-Moreira, Daniel   +19 more
core   +1 more source

Síndrome de MELAS: TC y RM como herramienta diagnóstica no invasiva MELAS syndrome: CT and MRI as a noninvasive diagnostic tool

Revista Argentina de Radiología, 2010
Se presenta el caso de un paciente masculino, de 16 años, con hipoacusia bilateral, miopatías y alteración neurológica focal. Desde los 9 años, presenta deficiencia en el desarrollo muscular con episodios repetidos de intolerancia al ejercicio, así como ...
Laura García, Romina Guglielmo, Lisandro Illa   +2 more
doaj  

Letter to the Editor: Gastrointestinal Pseudo‐Obstruction Is Not an Uncommon Phenotypic Manifestation of POLG1 Variants—Authors' Reply

European Journal of Neurology, Volume 33, Issue 6, June 2026.
Giuliana Capece, Renzo Manara, Leonardo Salviati, Carlo Viscomi, Luca Bello, Elena Pegoraro   +5 more
wiley   +1 more source

Mitochondrial neurogastrointestinal encephalomyopathy associated with progressive hearing loss

, 2010
Objective:We report a rare case of mitochondrial neurogastrointestinal encephalomyopathy with hearing loss.Case report:A 46-year-old woman presented with a three-year history of progressive, bilateral hearing loss and tinnitus.
H Yamamoto, Y Kadokawa, H Suzuki, N Hiraki, T Udaka, J Ohkubo   +5 more
core   +1 more source

Clinical and genetic spectrum of mitochondrial neurogastrointestinal encephalomyopathy

, 2011
Mitochondrial neurogastrointestinal encephalomyopathy is a rare multisystemic autosomic recessive disorder characterized by: onset typically before the age of 30 years; ptosis; progressive external ophthalmoplegia; gastrointestinal dysmotility; cachexia;
Caterina Garone, Garone C., Tadesse S., Saba Tadesse, Michio Hirano, Hirano M.   +5 more
core   +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, FUJINO, Tomoya, SUGIYAMA, Makoto, ISHIDA, Masashi   +3 more
openaire   +2 more sources

Stroke in MELAS is a Vasogenic Edema and not Ischemic

Basic and Clinical Neuroscience, 2020
We read with interest the article by Almasi et al. on a 48 years old female patient with Mitochondrial Encephalomyopathy, Lactic Acidosis, And Stroke-like episodes (MELAS), diagnosed based on the clinical presentation, blood test results, and imaging and
Josef Finsterer, Sinda Zarrouk-Mahjoub
doaj  

Case Report: A young man with mitochondrial disease: intellectual impairment and myocardial hypertrophy

Frontiers in Cardiovascular Medicine
Mitochondrial diseases are rare multisystem disorders caused by pathogenic variants in mitochondrial or nuclear DNA. We report a 23-year-old male presenting with exercise intolerance, fatigue, sluggish responsiveness, and a history of ptosis and ...
Xiao Luo, Ling Li, Gaofeng Su, Gaofeng Su   +3 more
doaj   +1 more source