Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

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Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.Autopsy case of the C12orf65 mutation in a patient with signs of mitochondrial dysfunction.Involvement of the Spinal Cord in Mitochondrial Disorders.

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Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

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Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

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Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

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Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

@en

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

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Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

@en

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

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P1476

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

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Eri Imagawa

http://www.w3.org/2001/XMLSchema#string

Mitsuko Nakashima

http://www.w3.org/2001/XMLSchema#string

Naomichi Matsumoto

http://www.w3.org/2001/XMLSchema#string

Noriko Miyake

http://www.w3.org/2001/XMLSchema#string

Ori Eyal

http://www.w3.org/2001/XMLSchema#string

Satoko Miyatake

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P2860

Structure based hypothesis of a mitochondrial ribosome rescue mechanism

Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies

Solution structure and siRNA-mediated knockdown analysis of the mitochondrial disease-related protein C12orf65

Architecture of the large subunit of the mammalian mitochondrial ribosome

Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect

Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship

Mechanism of protein biosynthesis in mammalian mitochondria.

Novel C12orf65 mutations in patients with axonal neuropathy and optic atrophy.

Terminating human mitochondrial protein synthesis: a shift in our thinking.

Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.

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212-216

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scholarly article

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10.1136/JNNP-2014-310084

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English

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http://www.w3.org/2001/XMLSchema#string

P478

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Yoshinori Tsurusaki

Ann Saada

Hirotomo Saitsu

Aviva Fattal-Valevski

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2015-05-20T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

25995486

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Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

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P2860

P2860

Homozygous p.V116* mutation in C12orf65 results in Leigh syndrome.

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type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P433

P478

P50

P577

P698