In dominant MED, abnormal growth of the epiphyses brings joint pain, stiffness and limited range of motion; COL9A3 and COMP mutations are among the known causes.
Plasma-cell cancer of the bone marrow is shaped by TP53 and KRAS mutations, which also alter the CD38, BCMA and SLAMF7 immunotherapy targets.
Discover the latest findings on genetic testing for multiple sclerosis, its role in predicting disease progression, and how it can improve diagnosis and treatment.
Heart, lung, kidney, brain, skin, eye and gastrointestinal involvement follows SARS-CoV-2 infection in some children; telling MIS-C from Kawasaki disease is discussed.
Weakness that worsens over time in muscular dystrophy pairs with the joint contractures of arthrogryposis; exercise, exon-skipping and gene therapy are covered.
Muscles near the spine weaken and waste while the lens of the eye clouds, and mutations have been reported in the GNE, MB and BAG3 genes in people with PAMC.
The RYR1 gene encodes ryanodine receptor 1, which controls calcium release in muscle; variants can cause weakness, low muscle tone, scoliosis and breathing problems.
Discover the role of genetic testing in diagnosing Nemaline Myopathy 3 (NEM3), understanding inheritance patterns, and guiding treatment strategies for this rare muscle disorder.