Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations.
about
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic optionsDefects in mitochondrial DNA replication and human diseasePotentially 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 syndromeHearing loss in a patient with the myopathic form of mitochondrial DNA depletion syndrome and a novel mutation in the TK2 gene.Mitochondrial depletion causes neonatal-onset leigh syndrome, myopathy, and renal tubulopathy.Retrospective natural history of thymidine kinase 2 deficiency.Mitochondrial Depletion Syndromes in Children and Adults
P2860
Q26865135-71A40919-2C65-495C-9AD3-ECB3284B4098Q34241192-F810EAB5-52D3-4B5A-AB2B-6C0A473B2893Q37304656-6CF0D4C5-5F76-472D-921A-243A150A8F30Q43084771-CF283B9B-9AE4-4BAF-BD6F-3AA55832CF6AQ48216498-9DF10C13-AD1A-43FC-AB3B-B00FD43A680FQ54981490-E06BF802-2DE7-4B58-88C2-B2F848C8453FQ56567987-D3C83303-65E9-4113-ABF9-9415401DD835
P2860
Progressive myofiber loss with extensive fibro-fatty replacement in a child with mitochondrial DNA depletion syndrome and novel thymidine kinase 2 gene mutations.
description
2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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2009年学术文章
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name
Progressive myofiber loss with ...... idine kinase 2 gene mutations.
@en
Progressive myofiber loss with ...... idine kinase 2 gene mutations.
@nl
type
label
Progressive myofiber loss with ...... idine kinase 2 gene mutations.
@en
Progressive myofiber loss with ...... idine kinase 2 gene mutations.
@nl
prefLabel
Progressive myofiber loss with ...... idine kinase 2 gene mutations.
@en
Progressive myofiber loss with ...... idine kinase 2 gene mutations.
@nl
P2093
P1476
Progressive myofiber loss with ...... midine kinase 2 gene mutations
@en
P2093
Brenda Wong
James Collins
Kevin E Bove
Lee-Jun Wong
Paula Morehart
P304
P356
10.1016/J.NMD.2009.08.002
P577
2009-09-06T00:00:00Z