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Table 1 Timeline of diagnosis the proband

From: Reporting a rare form of myopathy, myopathy with extrapyramidal signs, in an Iranian family using next generation sequencing: a case report

2012/06/25

Age at onset

2012/09/26

Physical examinations

2012/10/30

CK test and EMG/NCV

2012/12/05

Heart echocardiography

2013/07/27

Muscle biopsy study

2014/09/20

The first reffering for genetic diagnosis

2014/10/20

Autozygosity mapping

2016–2017

NGS analysis and Sanger sequencing

2017/03/05

Final Diagnoses

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BMC Medical Genetics

ISSN: 1471-2350

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