title: Gonadal mosaicism for ACTA1 gene masquerading as autosomal recessive nemaline myopathy.
authors.affiliation: Division of Neonatology, Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
authors.forename: Mohammed Zain
authors.initials: MZ
authors.lastname: Seidahmed
authors.affiliation: Division of Pediatric Neurology, Department of Pediatric, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Mustafa A
authors.initials: MA
authors.lastname: Salih
authors.affiliation: Division of Neonatology, Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
authors.forename: Omer Bashir
authors.initials: OB
authors.lastname: Abdelbasit
authors.affiliation: Department of Pathology and Laboratory Medicine, King Abdulaziz Medical City, Riyadh, Saudi Arabia.
authors.forename: Ali H
authors.initials: AH
authors.lastname: Alassiri
authors.affiliation: Division of Neonatology, Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
authors.forename: Khalid Al
authors.initials: KA
authors.lastname: Hussein
authors.affiliation: Division of Neonatology, Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
authors.forename: Abeer
authors.initials: A
authors.lastname: Miqdad
authors.affiliation: Division of Neonatology, Department of Pediatrics, Security Forces Hospital, Riyadh, Saudi Arabia.
authors.forename: Abdelmohsin
authors.initials: A
authors.lastname: Samadi
authors.affiliation: Pediatric Neurology, Department of Pediatric, Security Forces Hospital, Riyadh, Saudi Arabia.
authors.forename: Abdallah Al
authors.initials: AA
authors.lastname: Rasheed
authors.affiliation: Department of Radiology and Diagnostic Imaging, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia.
authors.forename: Ibrahim A
authors.initials: IA
authors.lastname: Alorainy
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
authors.forename: Ranad
authors.initials: R
authors.lastname: Shaheen
authors.affiliation: Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.|Departments of Anatomy and Cell Biology, College of Medicine, AL Faisal University, Riyadh, Saudi Arabia.
authors.forename: Fowzan S
authors.initials: FS
authors.lastname: Alkuraya
mesh_terms: D000199:Actins / Q000235:genetics*; D001921:Brain / Q000000981:diagnostic imaging; D017809:Fatal Outcome; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D020125:Mutation, Missense; D017696:Myopathies, Nemaline / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree
chemical_list: D000199:Actins