deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles

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deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles

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http://www.wikidata.org/entity/Q57191952

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wetenschappelijk artikel

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наукова стаття, опублікована в жовтні 2018

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deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles

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deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles

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deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles

@en

deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles

@nl

prefLabel

deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles

@en

deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles

@nl

P1476

deletion in an encephalomyopathy with hyperintensity of middle cerebellar peduncles

@en

P2093

Annabelle Chaussenot

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Cécile Rouzier

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Konstantina Fragaki

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Sabrina Sacconi

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Samira Ait-El-Mkadem

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Sylvie Bannwarth

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Véronique Paquis-Flucklinger

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P2860

Respiratory complex III is required to maintain complex I in mammalian mitochondria

A novel mutation in the mitochondrial DNA cytochrome b gene (MTCYB) in a patient with mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes syndrome.

Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene.

Complex III deficiency due to an in-frame MT-CYB deletion presenting as ketotic hypoglycemia and lactic acidosis.

A case of fragile X premutation tremor/ataxia syndrome with evidence of mitochondrial dysfunction.

A novel in-frame 18-bp microdeletion in MT-CYB causes a multisystem disorder with prominent exercise intolerance.

P304

e268

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P31

scholarly article

P356

10.1212/NXG.0000000000000268

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P407

English

P433

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P478

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P577

2018-10-01T00:00:00Z

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P698

30294674

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P932

6168751

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