Nemaline myopathy is the most common congenital myopathy. Infants usually have problems with breathing and feeding. Later, some skeletal problems may arise, such as scoliosis (curvature of the spine).

RYR1 gene: More than 200 RYR1 mutations have been reported to date, some exclusively associated with MmD and other congenital myopathy phenotypes, others with the malignant hyperthermia ...

Myopathy is a common term for a muscle disease that is unrelated to any disorder of innervation or neuromuscular junction, with a wide range of possible etiologies. Practically all types of ...

People with congenital myopathies often start to show symptoms when they're a baby or child. These myopathies often involve developmental delays in learning motor skills, such as crawling or walking.

Anderson Jet Joseph Demarest, better known as A.J., has a rare disease called Multi-minicore Congenital Myopathy, which impacts the muscles and developmental parts of a child.

The researchers used the gene alterations found in a patient, as a template to develop a mouse model for this type of congenital myopathy. “The mice don’t die, but their muscle system is ...

As it is a rare condition, experts estimate that NM occurs in 1 out of 50,000 live births. However, 1 out of 500 people in the Amish community may have it. Also known as congenital rod disease or ...

American Journal of Pathology. "Potential Therapy For Congenital Muscular Dystrophy." ScienceDaily. ScienceDaily, 1 January 2009. <www.sciencedaily.com / releases / 2008 / 12 / 081230072244.htm>.

The researchers used the gene alterations found in a patient, as a template to develop a mouse model for this type of congenital myopathy. The mice don't die, but their muscle system is severely ...

Rooney JE, Gurpur PB, Yablonka-Reuveni Z, and Burkin DJ: Laminin-111 restores regenerative capacity in a mouse model for alpha 7 integrin congenital myopathy. Am J Pathol 2009 174: 256-264 ...

One-year-old Maisie Woomer has congenital myopathy caused by the RYR-1 gene. “It had been a super normal pregnancy, and all the genetic testing was normal,” explains mother Courtney Woomer.