List of Mitochondrial Diseases
- ADOA: Autosomal Dominant Optic Atrophy. Autosomal Dominant. ...
- Alpers Disease. Alpers disease. ...
- Barth Syndrome. ...
- Carnitine Deficiency. ...
- CDD: Creatine Deficiency Syndromes.
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Understanding Different Types of Mitochondrial Disease · Autosomal Dominant Optic Atrophy · Alpers syndrome · Barth Syndrome · Beta-Oxidation Defects · Carnitine- ...
Jul 29, 2021 · Common clinical features of mitochondrial disorders include ptosis, external ophthalmoplegia, proximal myopathy and exercise intolerance, ...
Types of Mitochondrial Myopathies · Kearns-Sayre syndrome (KSS) · Leigh syndrome (subacute necrotizing encephalomyopathy) and maternally inherited Leigh syndrome ...
Feb 28, 2024 · Types of mitochondrial disorders · Barth syndrome · Chronic progressive external ophthalmoplegia · Kearns-Sayre syndrome · Leigh syndrome.
Disease Information - Rare Mitochondrial Disorders Service
mitochondrialdisease.nhs.uk › patient-area
This is one of the most common causes of mitochondrial disease. Patients with this genetic fault (mutation) have variable disease manifestations ranging from no ...
The most common forms of mitochondrial disease caused by recurrent mtDNA mutations first recognized 30 years ago include: Mitochondrial encephalopathy, lactic ...
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