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Episodic weakness and Charcot–marie–tooth disease due to a mitochondrial MT‐ATP6 mutation
Muscle & Nerve, 2017ABSTRACTIntroductionEpisodic muscle weakness is the hallmark of a heterogeneous group of disorders known as periodic paralysis. A majority are due to single nucleotide mutations causing membrane depolarization.MethodsWe report 2 family members with chronic, slowly progressive, distal axonal neuropathy, or Charcot–Marie–Tooth disease type 2 (CMT2) and ...
Francis B, Panosyan +2 more
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Journal of Medical Genetics, 2009
Background: Neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome have been associated to m.8993T>G/C mutations in the subunit 6 of the ATP synthase (p.MT-ATP6). Methods: We have performed a mutational screening of the ...
E, López-Gallardo +9 more
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Background: Neurogenic muscle weakness, ataxia and retinitis pigmentosa (NARP) syndrome have been associated to m.8993T>G/C mutations in the subunit 6 of the ATP synthase (p.MT-ATP6). Methods: We have performed a mutational screening of the ...
E, López-Gallardo +9 more
openaire +2 more sources
Decision letter for "Genotype‐phenotype analysis of MT‐ATP6 ‐associated Leigh syndrome"
2021+6 more sources
Association of MT-ATP6 gene mutations with the pathogenesis of chronic kidney disease in human
Human Gene, 2023Arindita Das +3 more
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Yeast as model to study the pathogenic mechanisms of mutations in mitochondrial MT-ATP6 gene
Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2022Roza Kucharczyk +7 more
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Genotype-phenotype analysis of MT-ATP6-associated Leigh syndrome
Acta Neurologica Scandinavica, 2022Ji-Hoon Na, Young Mok Lee
exaly
Clinical Heterogeneity in MT-ATP6 Pathogenic Variants: Same Genotype—Different Onset
Cells, 2022Yılmaz Yıldız +2 more
exaly