Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
about
Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6The Genetics of Spinal Muscular Atrophy: Progress and Challenges.Understanding structure, function, and mutations in the mitochondrial ATP synthase.Length heterogeneity at conserved sequence block 2 in human mitochondrial DNA acts as a rheostat for RNA polymerase POLRMT activity.Atypical periodic paralysis and myalgia: A novel RYR1 phenotype.Leigh syndrome in individuals bearing m.9185T>C MTATP6 variant. Is hyperventilation a factor which starts its development?A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.Expanding the clinical phenotypes of MT-ATP6 mutations.Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.ATP Synthase Diseases of Mitochondrial Genetic Origin.
P2860
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P2860
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
description
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Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
@en
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
@nl
type
label
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
@en
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
@nl
prefLabel
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
@en
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
@nl
P2093
P1433
P1476
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
@en
P2093
Anne Lombès
Anne-Laure Bedat-Millet
Bertrand Fontaine
Christophe Vandier
Christophe Vial
Claude Jardel
Emmanuel Fournier
Hélène Gervais-Bernard
Karine Auré
Lucie Clarysse
P304
P356
10.1212/01.WNL.0000436067.43384.0B
P407
P577
2013-10-23T00:00:00Z