Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy

Am J Med Genet A. 2016 Aug;170(8):2219-21. doi: 10.1002/ajmg.a.37768. Epub 2016 May 30.

¹ Division of Neonatology, Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
² Division of Pediatric Neurology, Department of Pediatric, King Saud University, Riyadh, Saudi Arabia.
³ Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
⁴ Pediatric Neurology, Department of Pediatric, Security Forces Hospital, Riyadh, Saudi Arabia.
⁵ Department of Radiology and Diagnostic Imaging, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia.
⁶ Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
⁷ Departments of Anatomy and Cell Biology, College of Medicine, AL Faisal University, Riyadh, Saudi Arabia.

No abstract available

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