Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I.
about
A patient with typical clinical features of mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) but without an obvious genetic cause: a case reportMitochondrial defects in acute multiple sclerosis lesionsMitochondrial cytochrome c oxidase deficiencyPathogenic mitochondrial DNA mutations in protein-coding genes.Expression of alternative oxidase in Drosophila ameliorates diverse phenotypes due to cytochrome oxidase deficiency.Perspectives on Exertional Rhabdomyolysis.Connexin- and pannexin-based channels in normal skeletal muscles and their possible role in muscle atrophy.Metabolic Myoglobinuria.Myopathology in the times of modern genetics.The investigation and management of metabolic myopathies.Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assemblyMELAS syndrome in a patient with a point mutation in MTTS1.
P2860
Q21202102-DCD74405-A0EE-446F-BEF2-25116B11C315Q24648580-AD3F8458-9F3E-4129-AC3B-183BB9EAF7AEQ26769015-D5AE3F9C-BC25-46FA-A8FB-1CA7920EDA88Q36822197-E1B74D10-2845-4C11-BAE7-F9D3FE8250B4Q37649092-4737A9C1-9B16-4DBD-888E-D9FB5FBF0657Q37727522-3B5ABAF7-FDB7-436D-8DCA-51BC619DD95CQ38031128-080FBAE1-538D-4CB0-81AD-7B8BBCC2DD14Q38576245-5744B0B4-756D-455E-A7B0-21441A52B34DQ39051467-3EF35E03-E016-482F-9517-1EB9876BF2C1Q41330451-58361784-D0B2-4CB5-9CA6-D9BA79150237Q42591168-585B9EC5-1DA5-4797-B701-4D1996D1EC3DQ46982277-8A140233-5A32-4A97-850B-E368469894D0
P2860
Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I.
description
2005 nî lūn-bûn
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2005年の論文
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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2005年学术文章
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name
Mitochondrial myopathy and rha ...... ytochrome c oxidase subunit I.
@en
Mitochondrial myopathy and rha ...... ytochrome c oxidase subunit I.
@nl
type
label
Mitochondrial myopathy and rha ...... ytochrome c oxidase subunit I.
@en
Mitochondrial myopathy and rha ...... ytochrome c oxidase subunit I.
@nl
prefLabel
Mitochondrial myopathy and rha ...... ytochrome c oxidase subunit I.
@en
Mitochondrial myopathy and rha ...... ytochrome c oxidase subunit I.
@nl
P2093
P2860
P356
P1476
Mitochondrial myopathy and rha ...... ytochrome c oxidase subunit I.
@en
P2093
Ali-Reza Moslemi
Anders Oldfors
Christopher Lindberg
Elisabeth Holme
Gittan Kollberg
P2860
P304
P356
10.1093/JNEN/64.2.123
P577
2005-02-01T00:00:00Z