June 24, 2004

Mighty mutant baby

The moment the little boy was born, the hospital staff knew there was something unusual about him. His muscles looked nothing like the soft baby muscles of the other infants in the nursery. They were bulging and well defined, especially in his thighs and upper arms.

"Everybody noticed," said Dr. Markus Schuelke, a pediatric neurologist at Charité University Medical Center in Berlin.

The baby, it turned out in the first such documented case in a human, had a double dose of a genetic mutation that causes immense strength in mice and cattle. Drugs are under development that, investigators hope, will use the same principle to help people whose muscles are wasting from muscular dystrophy or other illnesses. Experts say the little boy, now 4˝ and still very strong, offers human evidence for the theory behind such drugs.

Read the rest in the NY Times.

Posted by David on June 24, 2004 8:02 AM

Comments

Sydney Smith
http://www.medpundit.blogspot.com/2004_06_20_medpundit_archive.html#108804948991014550
points to the NEJM -
http://content.nejm.org/
which has a (small, but IE's "zoom" is sufficient) picture of the child's leg at 7 months.

Posted by: John Anderson on June 24, 2004 9:29 PM
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