Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

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http://www.wikidata.org/entity/Q38549163
Novel recessive mutations in COQ4 cause severe infantile cardiomyopathy and encephalopathy associated with CoQ10 deficiency.Mitochondrial diseases: advances and issues.The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.Biochemical Assessment of Coenzyme Q10 Deficiency.Clinical application of whole-exome sequencing across clinical indications.Genetic Rescue of Mitochondrial and Skeletal Muscle Impairment in an Induced Pluripotent Stem Cells Model of Coenzyme Q10 Deficiency.Coenzyme Q10 deficiency due to a COQ4 gene defect causes childhood-onset spinocerebellar ataxia and stroke-like episodes
P2860

Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy.

Item
http://www.wikidata.org/entity/Q38549163
description
2015 nî lūn-bûn
@nan
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
@zh
2015年论文
@zh-cn
name
Mutations in COQ4, an essentia ...... tochondrial encephalomyopathy.
@en
type
label
Mutations in COQ4, an essentia ...... tochondrial encephalomyopathy.
@en
prefLabel
Mutations in COQ4, an essentia ...... tochondrial encephalomyopathy.
@en
P1433
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P2860
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Mutations in COQ4, an essentia ...... itochondrial encephalomyopathy
@en
P2093
P2860
P304
P31
P356
10.1136/JMEDGENET-2015-103140
P407
P433
P478
P50
P577
P698