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2Can Case Study - Genetic Disorders of Muscle
Introduction
These progressive muscle disorders are caused by mutations in the DNA, which usually are inherited, or less often caused by new spontaneous mutations.
These defects in the DNA encode the genes for structural proteins or enzymes important for muscle function and are often distinguished clinically by a selective distribution of muscle weakness.
Inherited or new mutations in the coding sequences of genes which encode the structural proteins of muscles can have detrimental effects to the quality of life and longevity of people affected by these disorders. A single point mutation can effect the tertiary structure of a protein sufficiently to cause a disease phenotype.
These types of diseases often unveil themselves in early childhood and get progressively worse, resulting in the effected individual being weelchair-bound, often the weakness spreading to the muscles of the heart and breathing system, which will often ultimately result in death if the cardiac and respiratory systems are severely effected.
We will next look at the structure of normal muscle >>>
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