Alan Beggs

A competition to identify and explain genetic mutations using genome sequencing has solved an 11-year mystery for the family of a boy with centronuclear myopathy

posted on November 20, 2012 - 5:00am
Update (Oct. 1, 2013): For more about the titin gene and CNM, see Titin Mutations Can Cause CNM, posted Sept. 23, 2013.

Houston conference planned for families affected by centronuclear myopathies; includes live Webcast

posted on July 13, 2009 - 9:00pm
Families affected by muscle diseases known as centronuclear myopathies, including myotubular myopathy, may be interested in attending a conference in Houston July 24-26, either in person or online.

A range of outcomes

posted on September 1, 2007 - 10:07am
QUEST Vol. 14, No. 5
When Patrick and Sarah Foye of Pine Brook, N.J., had their baby boy, Adam, in 2001, there was little reason to believe at first that anything was wrong. "Adam had a normal birth," Sarah says, but things didn't go as well as expected in the months that followed. Patrick is a physician specializing in rehabilitation, and Sarah is an occupational therapist, so they were quick to note that something...