Results 131 to 140 of about 2,461,819 (231)

Cardiac Involvement in Patients with MELAS-Related mtDNA 3243A>G Variant

Cardiogenetics
Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a rare disease with variable clinical manifestations. MELAS is most often caused by the human mitochondrial DNA (mtDNA) m.3243A>G variant.
Aino-Maija Vuorinen, Lauri Lehmonen, Mari Auranen, Sini Weckström, Sari Kivistö, Miia Holmström, Tiina Heliö   +6 more
doaj   +1 more source

MELAS Syndrome [PDF]

, 2020
openaire   +1 more source

Case studies of two families with MIDD and MELAS: heteroplasmy level in m.3243A>G mutation and the first report on m.3271T>C mutation in Colombia

Case Reports, 2016
MELAS syndrome (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) and MIDD syndrome (maternally inherited diabetes and deafness) are mitochondrial diseases caused in most cases by the same mutation m.3243A> G, which affects the
Jorge Luis Granadillo De Luque, Manuel Luna, Leonardo Hernández-Reina, Clara Arteaga-Diaz, Juan Manuel Arteaga-Díaz   +4 more
doaj  

A novel mtDNA point mutation in tRNAVal is associated with hypertrophic cardiomyopathy and MELAS [PDF]

, 2004
Background. Pathological mutations of mitochondrial (mt) DNA may cause specific diseases such as cardiomyopathies or hearing loss, or syndromes such as mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome.
Arbustini, Eloisa, Brega, Agnese, Diegoli, Marta, Grasso, Maurizia, Menotti, Francesca, Modena, Maria Grazia   +5 more
core  

A Patient with MELAS Syndrome Carried an M.3243A>G Mutation in Mitochondrial DNA and Multiple Nuclear Genetic Variants: A Case Report. [PDF]

Iran J Public Health, 2022
Chu X, Dai J, Cui H, Shen H, Wu Q, Zhu X, Zhu B.   +6 more
europepmc   +1 more source

A Mitochondrial Disorder in a Middle Age Iranian Patient: Report of a Rare Case

Basic and Clinical Neuroscience, 2017
Introduction: Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) can involve multiple systems and cause stroke-like episodes and status epilepticus.
Mostafa Almasi, Mohammad Reza Motamed, Masoud Mehrpour, Bahram Haghi-Ashtiani, Fahimeh Haji Akhondi, Yalda Nilipour, Seyed-Mohammad Fereshtehnejad   +6 more
doaj  

Psychiatric care for a person with MELAS syndrome: A case report. [PDF]

Clin Case Rep, 2021
Leong DY, Chee RY, Lui YS.
europepmc   +1 more source

Characteristic cardiac phenotypes are detected by cardiovascular magnetic resonance in patients with different clinical phenotypes and genotypes of mitochondrial myopathy [PDF]

, 2015
Ali Yilmaz, Anca Florian, Anna Ludwig, Bianca Stubbe-Dräger, Johannes Waltenberger, Matthias Boentert, Peter Young, Sabine Rösch, Udo Sechtem   +8 more
core   +1 more source

Migrânea episódica associada com síndrome da taquicardia ortostática postural e síncope vasovagal: migrânea desencadeia síncope neuromediada [PDF]

, 2008
LANGE, Marcos Cristiano, LORENZONI, Paulo José, PIOVESAN, Elcio Juliato, SCOLA, Rosana Herminia, SILBERSTEIN, Stephen, SMITH, Débora, SOBREIRA, Claudia Ferreira, WERNECK, Lineu Cesar   +7 more
core   +2 more sources

Delay in diagnosing a patient with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome who presented with status epilepticus and lactic acidosis: a case report. [PDF]

J Med Case Rep, 2022
Alenezi AF, Almelahi MA, Fekih-Romdhana F, Jahrami HA.   +3 more
europepmc   +1 more source