https://pubmed.ncbi.nlm.nih.gov/10976639/
Genetic defects affecting the mitochondrial respiratory chain are an important cause of neurological disease. Previously, we identified a family with complex...
optic atrophylateonsetataxiamyopathy
https://www.genome.bio/post/unknown-prevalence-partial-penetrance-lots-to-learn-about-laing-distal-myopathy
Laing(-like) distal myopathies are caused by mutations in the myosin gene MYH7. Patients present with clinically varied phenotypes and face no currently...
unknownprevalencepartialpenetrancelots
https://www.sciencedaily.com/releases/2006/09/060905224453.htm
Researchers from the University of Minnesota have identified the importance of a gene critical to normal muscle function, resulting in a new mouse model for a...
mouse modelresearchersdevelopunderstoodhuman
https://www.news-medical.net/health/Myopathy-Types.aspx
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...
myopathytypes