"Missense" mutations — changes in a DNA sequence that swap one amino acid for another — in nearly 5,000 human proteins are known to cause genetic diseases, such as Huntington's disease and ...

We studied five patients from two families from the United States of America. In family CSM1, two out of three siblings developed proximal muscle weakness and wasting while in their twenties or ...

Figure 1: Pedigree and genotypic analysis of a DRM family. Figure 2: Transverse cryostat sections of the muscle from a DRM patient (III8 on pedigree). Figure 3: Cytoplasmic aggregates are formed ...