A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism. (Q50348901)

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scientific article published on 8 August 2016

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English	A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism.	scientific article published on 8 August 2016

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scholarly article

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20 March 2020

A novel mutation m.8561C>G in MT-ATP6/8 causing a mitochondrial syndrome with ataxia, peripheral neuropathy, diabetes mellitus, and hypergonadotropic hypogonadism (English)

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20 March 2020

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peripheral neuropathy

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Laura Kytövuori

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20 March 2020

Mika H Martikainen

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Mika H Martikainen

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author name string

Joonas Lipponen

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Harri Rusanen

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Tuomas Komulainen

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Kari Majamaa

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8 August 2016

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20 March 2020

Journal of Neurology

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263

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2188-2195

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20 March 2020

https://scigraph.springernature.com/pub.10.1007/s00415-016-8249-2

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Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease

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A novel mitochondrial mutation m.8989G>C associated with neuropathy, ataxia, retinitis pigmentosa - the NARP syndrome.

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Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease

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Adult-onset spinocerebellar ataxia syndromes due to MTATP6 mutations

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Charcot-Marie-Tooth hereditary neuropathy due to a mitochondrial ATP6 mutation.

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Scale for the assessment and rating of ataxia: development of a new clinical scale

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HaploGrep: a fast and reliable algorithm for automatic classification of mitochondrial DNA haplogroups.

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mtDNA tree Build 17 (18 Feb 2016)

1 reference

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PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations

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21 January 2018

Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA.

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Resolving mitochondrial protein complexes using nongradient blue native polyacrylamide gel electrophoresis.

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Estrogen receptor beta as a mitochondrial vulnerability factor

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Biochemical diagnosis of mitochondrial disorders

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Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations

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A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.

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21 January 2018

Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.

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Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein.

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21 January 2018

Impaired ATP synthase assembly associated with a mutation in the human ATP synthase subunit 6 gene

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Assembly and oligomerization of human ATP synthase lacking mitochondrial subunits a and A6L.

1 reference

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21 January 2018

Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype

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Primary hypogonadism in females with infantile onset spinocerebellar ataxia.

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Endocrine disorders in mitochondrial disease.

1 reference

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Oxidative phosphorylation: synthesis of mitochondrially encoded proteins and assembly of individual structural subunits into functional holoenzyme complexes

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Late-onset cerebellar ataxia with hypogonadism and muscle coenzyme Q10 deficiency

1 reference

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12 December 2020

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A novel finding in MNGIE (mitochondrial neurogastrointestinal encephalomyopathy): hypergonadotropic hypogonadism

1 reference

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12 December 2020

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A new mitochondrial disease associated with mitochondrial DNA heteroplasmy

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Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation

1 reference

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12 December 2020

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Altered properties of mitochondrial ATP-synthase in patients with a T-->G mutation in the ATPase 6 (subunit a) gene at position 8993 of mtDNA

1 reference

https://pubmed.ncbi.nlm.nih.gov/27502083

12 December 2020

based on heuristic

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A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome

1 reference

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12 December 2020

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Spinocerebellar ataxia types 1, 2, 3, and 6: Disease severity and nonataxia symptoms

1 reference

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12 December 2020

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Updated comprehensive phylogenetic tree of global human mitochondrial DNA variation

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Use of myoblast cultures to study mitochondrial myopathies

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Identifiers

10.1007/S00415-016-8249-2

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27502083%20AND%20SRC:MED&resulttype=core&format=json

20 March 2020

1 reference

Europe PubMed Central

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20 March 2020

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