Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis

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Whole exome sequencing may be insufficient to cover the causality spectrum of rhabdomyolysis Response to Finsterer and Zarrouk-Mahjoub

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Q58751076-3ECE6925-76F6-4567-B283-BF9BE33A28F2 Q58781775-97FA3E94-969A-40BA-B3C3-23CA1D1CB3CA

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Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis

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wetenschappelijk artikel

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наукова стаття, опублікована у вересні 2018

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Pathogenic and rare deleteriou ...... rent exertional rhabdomyolysis

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Pathogenic and rare deleteriou ...... rent exertional rhabdomyolysis

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Pathogenic and rare deleteriou ...... rent exertional rhabdomyolysis

@en

Pathogenic and rare deleteriou ...... rent exertional rhabdomyolysis

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Pathogenic and rare deleteriou ...... rent exertional rhabdomyolysis

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Pathogenic and rare deleteriou ...... rent exertional rhabdomyolysis

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Pathogenic and rare deleteriou ...... rent exertional rhabdomyolysis

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Francis G O'Connor

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Iren Horkayne-Szakaly

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John F Capacchione

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Jonathan K Smith

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Kevin Chuang

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Mingqiang Ren

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Nyamkhishig Sambuughin

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Ognoon Mungunsukh

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Sheila M Muldoon

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Exome analysis identifies Brody myopathy in a family diagnosed with malignant hyperthermia susceptibility

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76-81

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scholarly article

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10.1016/J.YMGMR.2018.07.007

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English

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Patricia A. Deuster

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2018-09-01T00:00:00Z

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30094188

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endocrinology

molecular biology

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6072915

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Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis

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Pathogenic and rare deleterious variants in multiple genes suggest oligogenic inheritance in recurrent exertional rhabdomyolysis

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type

label

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P1433

P1476

P2093

P2860

P304

P31

P356

P407

P478

P50

P577

P698

P921

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P407

P478

P50

P577

P698

P921

P932