Peripheral neuropathy associated with mitochondrial disease in children. - Wikidata - wikimedia - TriplyDB

Peripheral neuropathy associated with mitochondrial disease in children.

Peripheral neuropathy associated with mitochondrial disease in children.

http://www.wikidata.org/entity/Q37995703

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A new locus for X-linked dominant Charcot-Marie-Tooth disease (CMTX6) is caused by mutations in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene.Childhood mitochondrial encephalomyopathies: clinical course, diagnosis, neuroimaging findings, mtDNA mutations and outcome in six children.The cellular and molecular progression of mitochondrial dysfunction induced by 2,4-dinitrophenol in developing zebrafish embryos Bovine and murine models highlight novel roles for SLC25A46 in mitochondrial dynamics and metabolism, with implications for human and animal health.Potentially diagnostic electron paramagnetic resonance spectra elucidate the underlying mechanism of mitochondrial dysfunction in the deoxyguanosine kinase deficient rat model of a genetic mitochondrial DNA depletion syndrome Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.Congenital multiple cranial neuropathies: Relevance of orofacial electromyography in infants.Peripheral neuropathy is a common manifestation of mitochondrial diseases: a single-centre experience.Recent Advances in Mitochondria-Targeted Gene Delivery

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Peripheral neuropathy associated with mitochondrial disease in children.

http://www.wikidata.org/entity/Q37995703

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Peripheral neuropathy associated with mitochondrial disease in children.

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Peripheral neuropathy associated with mitochondrial disease in children.

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type

label

Peripheral neuropathy associated with mitochondrial disease in children.

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Peripheral neuropathy associated with mitochondrial disease in children.

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Peripheral neuropathy associated with mitochondrial disease in children.

@en

Peripheral neuropathy associated with mitochondrial disease in children.

@nl

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J.1469-8749.2012.04271.X

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Developmental Medicine and Child Neurology

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Peripheral neuropathy associated with mitochondrial disease in children.

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Manoj P Menezes

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Robert A Ouvrier

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P2860

Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder

OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28

Mitochondrial aspartyl-tRNA synthetase deficiency causes leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation

Leber's "plus": neurological abnormalities in patients with Leber's hereditary optic neuropathy

Multi-system neurological disease is common in patients with OPA1 mutations

Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect

Navajo neurohepatopathy is caused by a mutation in the MPV17 gene

Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement

Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy

Dichloroacetate causes toxic neuropathy in MELAS: a randomized, controlled clinical trial

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407-414

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10.1111/J.1469-8749.2012.04271.X

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