Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA

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Mitochondrial Mutations in Cardiac Disorders.Mutant desmin substantially perturbs mitochondrial morphology, function and maintenance in skeletal muscle tissue Molecular insights into cardiomyopathies associated with desmin (DES) mutations

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Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA

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2015 nî lūn-bûn

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2015年の論文

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2015年論文

@yue

2015年論文

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2015年論文

@zh-hk

2015年論文

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@zh-tw

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Desmin common mutation is asso ...... chondria and mitochondrial DNA

@en

Desmin common mutation is asso ...... chondria and mitochondrial DNA

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Desmin common mutation is asso ...... chondria and mitochondrial DNA

@en

Desmin common mutation is asso ...... chondria and mitochondrial DNA

@nl

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Desmin common mutation is asso ...... chondria and mitochondrial DNA

@en

Desmin common mutation is asso ...... chondria and mitochondrial DNA

@nl

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Desmin common mutation is asso ...... chondria and mitochondrial DNA

@en

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Elizabeth M McCormick

http://www.w3.org/2001/XMLSchema#string

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Missense mutations in desmin associated with familial cardiac and skeletal myopathy

Quantitative evaluation of the mitochondrial DNA depletion syndrome

The problem of interlab variation in methods for mitochondrial disease diagnosis: enzymatic measurement of respiratory chain complexes.

The relationship between skeletal muscle mitochondrial citrate synthase activity and whole body oxygen uptake adaptations in response to exercise training.

Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.

A modern approach to the treatment of mitochondrial disease

Simultaneous detection and quantification of mitochondrial DNA deletion(s), depletion, and over-replication in patients with mitochondrial disease.

Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D.

Desmin cytoskeleton linked to muscle mitochondrial distribution and respiratory function.

Biochemical assays of respiratory chain complex activity.

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199

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scholarly article

case report

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10.3389/FGENE.2015.00199

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http://www.w3.org/2001/XMLSchema#string

P50

Lawrence C. Kenyon

Marni J Falk

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2015-06-05T00:00:00Z

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279158727

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26097489

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mitochondrial DNA

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4456612

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Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA

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P2860

P2860

Desmin common mutation is associated with multi-systemic disease manifestations and depletion of mitochondria and mitochondrial DNA

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type

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P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P5875

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P478

P50

P577

P5875

P698

P921

P932