SNP Shot: Genomic Insights

Myosin storage myopathy is a muscle disorder (myopathy) characterized by slowly progressive or non-progressive muscle weakness. A key feature of this condition is the presence of abnormal clusters of protein, specifically containing myosin, inside specific muscle fibers. While symptoms often appear in childhood, they can manifest later in life. Affected individuals may experience delayed walking, a swaying walk (waddling gait), difficulty navigating stairs, and problems raising their arms overhead due to muscle weakness. In some cases, this weakness can also lead to breathing difficulties.

Inheritance:

Myosin storage myopathy follows an autosomal dominant inheritance pattern. This means that inheriting just one copy of the mutated gene in each cell is enough to cause the disorder to develop.