Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy

Circ Genom Precis Med. 2021 Apr;14(2):e003310. doi: 10.1161/CIRCGEN.120.003310. Epub 2021 Apr 2.

Mohammed Almannai^{1

2}, Shiyu Luo^{3

4

5}, Eissa Faqeih¹, Fuad Almutairi^{6

7

8}, Qifei Li^{3

4

5}, Pankaj B Agrawal^{3

4

5}

¹ Section of Medical Genetics, Children Specialized Hospital, King Fahad Medica City, Riyadh, Saudi Arabia (M.A., E.F.).
² College of Medicine, King Saud University, Riyadh, Saudi Arabia (M.A.).
³ Division of Newborn Medicine (S.L., Q.L., P.B.A.), Boston Children's Hospital and Harvard Medical School, Boston, MA.
⁴ Division of Genetics and Genomics (S.L., Q.L., P.B.A.), Boston Children's Hospital and Harvard Medical School, Boston, MA.
⁵ The Manton Center for Orphan Disease Research (S.L., Q.L., P.B.A.), Boston Children's Hospital and Harvard Medical School, Boston, MA.
⁶ Genetics and Precision Medicine Department, King Abdulaziz Medical City, Riyadh, Saudi Arabia (F.A.).
⁷ King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia (F.A.).
⁸ King Abdullah International Medical Research Centre, Riyadh, Saudi Arabia (F.A.).

No abstract available

Keywords: cardiomyopathy; exome; heart failure; mitral valve; sibling.

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