Results 111 to 120 of about 2,165 (170)

Mitochondrial myopathies diagnosed in adulthood: clinico-genetic spectrum and long-term outcomes. [PDF]

Brain Commun
Beecher G, Gavrilova RH, Mandrekar J, Naddaf E.   +3 more
europepmc   +1 more source

Essential Oils from Citrus Peels Promote Calcium Overload-Induced Calcicoptosis in U251 Cells. [PDF]

Antioxidants (Basel)
Li Y, Wei J, Ye Z, Ji C, Li W, Xu L, Zhou Z.   +6 more
europepmc   +1 more source

Advances in gene therapy for mitochondrial genetic disorders: current status and clinical implementation challenges. [PDF]

J Transl Med
Lyu L, Qie B, He Y, Chen F, Liu B.
europepmc   +1 more source

Mitochondrial cardiomyopathy with skeletal muscle myopathy caused by m.3260A > G mutation in MT-TL1 gene: a case report. [PDF]

J Med Case Rep
Kadiša A, Vereskuns R, Tarasovs M, Mičule I, Inashkina I.   +4 more
europepmc   +1 more source

The Phenotypic Range of Mitochondrial Myopathies and Disorders is More Diverse Than Expected. [PDF]

Ann Indian Acad Neurol
Finsterer J.
europepmc   +1 more source

HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA. [PDF]

BMC Genomics
Lin Y, Wang J, Xu R, Xu Z, Wang Y, Pan S, Zhang Y, Tao Q, Zhao Y, Yan C, Cao Z, Ji K.   +11 more
europepmc   +1 more source

CRISPR prime editing of mitochondrial heteroplasmy in rare Kearns-Sayre syndrome: ocular and cardiac synergies. [PDF]

Ann Med Surg (Lond)
Shahab SH, Habib F.
europepmc   +1 more source

Chronic progressive external ophthalmoplegia (CPEO)

Neurology, 1983
We studied skeletal muscles from eight chronic progressive external ophthalmoplegia patients with ragged-red fibers (group A), five CPEO patients without ragged-red fibers (group B), and five controls. The EM morphometric fraction of structurally abnormal mitochondria was increased in group A, and there was a similarly increased fraction of normal ...
Hiroshi Mitsumoto, June R. Aprille, Shirley H. Wray, Raffaello Nemni, Walter G. Bradley   +4 more
openalex   +4 more sources

CPEO – Like mitochondrial myopathy associated with m.8340G>A mutation

Mitochondrion, 2018
Two patients with an m.8340G>A mitochondrial DNA variant have been reported with one patient showing ptosis, ophthalmoparesis and myopathy at 53% heteroplasmy and another with pigmentary retinopathy, cataracts and sensory neural deafness and slightly higher heteroplasmy (65%). Here we report that higher muscle mutant heteroplasmy (93%) for m.8340G>A is
Mark A. Tarnopolsky, Arun Sundaram, John Provias, Lauren Brady, Bekim Sadiković   +4 more
openalex   +3 more sources