lunes, 8 de julio de 2019

Medical mystery sheds light on the surprising ways genes can be inherited

Medical mystery sheds light on the surprising ways genes can be inherited

Morning Rounds

Shraddha Chakradhar

Inside STAT: A misshapen heart, and a mysterious inheritance of disease-causing genes

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(DOM SMITH/STAT)
To her family, Tatiana Legkiy seemed healthy at birth. But when a pediatrician listened to her heart, the rhythm wasn’t right. The muscle, it turned out, hadn’t formed correctly and was having trouble pumping blood. Medications corrected the cadence — but her doctors were intrigued to see that her 4-year-old sister had a similarly misshapen heart and that their dad had a very mild version. If the issue was genetic, why was it so severe in the kids and so minor in their father? Over 10 years later, scientists have found the answer — one that sheds light on the strange paths inherited mutations can take. STAT’s Andrew Joseph has the story here.

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