Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy.

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Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy.

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2018 nî lūn-bûn

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2018年の論文

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2018年学术文章

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2018年学术文章

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2018年学术文章

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2018年學術文章

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Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy.

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Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy.

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Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy.

@en

Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy.

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Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy.

@en

Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy.

@nl

P1476

Rare desmin variant causing penetrant life-threatening arrhythmic cardiomyopathy

@en

P2093

Ad W G J Oomen

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Christopher Semsarian

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Katherine Jones

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Laura Yeates

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Raymond W Sy

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P2860

A dysfunctional desmin mutation in a patient with severe generalized myopathy

Missense mutations in desmin associated with familial cardiac and skeletal myopathy

Desmin: a major intermediate filament protein essential for the structural integrity and function of muscle.

Autophagic vacuolar pathology in desminopathies.

Clinical, morphological and genetic studies in a cohort of 21 patients with myofibrillar myopathy.

Desmin-related myopathy.

Disease mutations in the "head" domain of the extra-sarcomeric protein desmin distinctly alter its assembly and network-forming properties.

Aberrant protein aggregation is essential for a mutant desmin to impair the proteolytic function of the ubiquitin-proteasome system in cardiomyocytes.

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

High cardiovascular morbidity and mortality in myofibrillar myopathies due to DES gene mutations: a 10-year longitudinal study.

P304

318-323

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P31

scholarly article

case report

P356

10.1016/J.HRCR.2018.04.007

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P433

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P478

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P50

Jodie Ingles

P577

2018-04-28T00:00:00Z

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P698

30023281

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P932

6050459

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