Mitochondrial Myopathy With Lactic Acidosis
What's New
Last Posted: Mar 05, 2023
- Patients with MELAS with negative myopathology for characteristic ragged-red fibers.
Lu Yuanyuan, et al. Journal of the neurological sciences 2019 0 116499 - Mitochondrial myopathy with lactic acidosis
From NCATS Genetic and Rare Diseases Information Center - Autonomic symptoms in carriers of the m.3243A>G mitochondrial DNA mutation.
Parsons Timothy, et al. Archives of neurology 2010 8 (8) 976-9 - Protean phenotypic features of the A3243G mitochondrial DNA mutation.
Kaufmann Petra, et al. Archives of neurology 2009 1 (1) 85-91 - A novel mtDNA point mutation in tRNA(Val) is associated with hypertrophic cardiomyopathy and MELAS.
Menotti Francesca, et al. Italian heart journal : official journal of the Italian Federation of Cardiology 2004 6 (6) 460-5 - A pilot study of mitochondrial DNA point mutation A3243G in a sample of Croatian patients having type 2 diabetes mellitus associated with maternal inheritance.
Martin-Kleiner I, et al. Acta diabetologica 2004 12 (4) 179-84 - Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation.
Torroni Antonio, et al. American journal of human genetics 2003 4 (4) 1005-12
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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