Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Ana TopfKatherine JohnsonAdam BatesLauren PhillipsKatherine R ChaoEleina M EnglandKristen M LaricchiaThomas MullenElise ValkanasLiwen XuMarta BertoliAlison BlainAna B CasasúsJennifer DuffMagdalena MroczekSabine SpechtMonkol LekMonica EnsiniDaniel G MacArthurnull nullVolker StraubPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
Using our unique infrastructure, we developed a pathway to expedite muscle disease diagnoses. Our data suggest that exome sequencing should be used for pathogenic variant detection in patients with suspected genetic muscle diseases, focusing first on the most common disease genes described here, and subsequently in rarer and newly characterized disease genes.