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Results: Two of them had limb\u2010girdle myopathy and global developmental delay. The two elder siblings performed allogenic hematopoietic stem\u2010cell transplantation 5 and 3 years prior with stabilization of the hematological features. Exome sequencing in the non\u2010transplanted sibling revealed a novel homozygous nonsense variant in <jats:italic>SLC25A38<\/jats:italic> gene NM_017875.2:c.559C\u00a0&gt;\u00a0T; p.(Arg187*) causing autosomal\u2010recessive sideroblastic anemia type\u20102, and a second homozygous pathogenic previously reported variant in <jats:italic>GMPPB<\/jats:italic> gene NM_013334.3:c.458C\u00a0&gt;\u00a0T; p.(Thr153Ile) causing autosomal\u2010recessive muscular dystrophy\u2010dystroglycanopathy type B14. With the established diagnosis, hematopoietic stem cell transplantation is now being scheduled for the youngest sibling, and a trial therapy with acetylcholine esterase inhibitors was started for the two neurologically affected patients with partial clinical improvement. Conclusion: This family emphasizes the importance of whole\u2010exome sequencing for familial cases with complex phenotypes and vague neurological manifestations.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ahg.12505","type":"journal-article","created":{"date-parts":[[2023,3,14]],"date-time":"2023-03-14T10:39:59Z","timestamp":1678790399000},"page":"166-173","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Three siblings with variable degrees of neuromuscular involvement and congenital sideroblastic anemia: A peculiar phenotype and a surprise genotypic explanation"],"prefix":"10.1111","volume":"87","author":[{"given":"Mai Abd El","family":"Salam","sequence":"first","affiliation":[{"name":"Department of Pediatrics (Pediatric Hematology Unit), Kasr Alainy Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Khaled","family":"Salama","sequence":"additional","affiliation":[{"name":"Department of Pediatrics (Pediatric Hematology Unit), Kasr Alainy Faculty of Medicine Cairo University  Cairo Egypt"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasmeen M. 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