Nemaline Myopathy

Gene ID'd for Type 6 Nemaline Myopathy

A research group has identified specific mutations in a gene on chromosome 15 called KBTBD13 that cause a type of nemaline myopathy (NM), a disease in which thread- or rod-like ("nemaline") material forms clumps in affected muscle.

The newly identified mutations cause type 6 NM. A number of mutations in genes associated with other subtypes of the disease already have been identified.

Man With NM on 'Millionaire'

Sargon de Jesus has always been a trivia buff and a fan of game shows that test trivia smarts. So when he earned an appearance on the popular TV game show Who Wants To Be A Millionaire, de Jesus was "totally psyched" and ready to take his shot at some big money.

Busy man

As someone who has cultivated a vast array of interests and talents, de Jesus possesses a broad and varied base of experience upon which to draw.

NM Research: Successful Substitute?

A protein present in skeletal muscles during fetal development and in the heart after birth can apparently compensate for a similar protein that's missing in a small percentage of patients with the muscle disease known as nemaline myopathy.

MDA research grantee Nigel Laing at the University of Western Australia in Perth was part of a multinational team of scientists, who published their findings May 25, 2009, in the Journal of Cell Biology.

Cardiac Actin Can Substitute for Skeletal-Muscle Actin

A protein present in skeletal muscles during fetal development and in the heart after birth can apparently compensate for a similar protein that's missing in a small percentage of patients with the muscle disease known as nemaline myopathy.

MDA research grantee Nigel Laing at the University of Western Australia in Perth was part of a multinational team of scientists, who published their findings May 25, 2009, in the Journal of Cell Biology.

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