Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
about
Motor Neuron Syndrome as a New Phenotypic Manifestation of Mutation 9185T>C in Gene MTATP6Understanding structure, function, and mutations in the mitochondrial ATP synthase.Clinically proven mtDNA mutations are not common in those with chronic fatigue syndrome.Mitochondrial DNA sequence characteristics modulate the size of the genetic bottleneckHereditary ataxias: overview.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.Episodic weakness and Charcot-marie-tooth disease due to a mitochondrial MT-ATP6 mutation.ATP Synthase Diseases of Mitochondrial Genetic Origin.Human diseases associated with defects in assembly of OXPHOS complexes
P2860
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P2860
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
description
2012 nî lūn-bûn
@nan
2012 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2012年の論文
@ja
2012年論文
@yue
2012年論文
@zh-hant
2012年論文
@zh-hk
2012年論文
@zh-mo
2012年論文
@zh-tw
2012年论文
@wuu
name
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
@ast
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
@en
type
label
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
@ast
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
@en
prefLabel
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
@ast
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
@en
P2093
P2860
P50
P356
P1476
Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations
@en
P2093
Adam Hassani
Mike Boggild
Robert W Taylor
P2860
P304
P356
10.1136/JNNP-2012-302568
P407
P577
2012-05-10T00:00:00Z