Nemaline Myopathy

Muscle Disease Quality-of-Life Study Seeks Participants

Researchers at the University of Michigan are seeking 30 young adults, ages 18-29, who have had symptoms of certain forms of muscular dystrophy or myopathy since birth, to complete an online survey that asks about their perceived quality of life and level of independence.

The study also is recruiting 30 adults with no neuromuscular disease.

Results will be used to identify ways that counselors and therapists can address specific factors considered important by people with congenital muscle diseases (present at or near birth).

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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