http://www.ncbi.nlm.nih.gov/disease/Muscle.html
Muscle and bone Duchenne muscular_dystrophy Ellis-van_creveld_syndrome Marfan_syndrome Myotonic_dystrophy Spinal muscular_atrophy THE SKELETON provides an anchor point against which muscles, attached via tendons, can exert force. There_are a number of diseases that are_caused by defects in genes important for the formation and function of muscles, and connective_tissues. Connective_tissue is a broad term that includes bones, cartilage and tendons. Defects in fibrillin-a connective_tissue proteins that_is important in making the tissue strong yet flexible-cause Marfan_syndrome, while diastrophic dysplasia is_caused by a defect in a sulfate transporter found in cartilage. Two diseases that originate through a defect in the muscle_cells themselves are Duchenne muscular_dystrophy (DMD) and myotonic_dystrophy (DM. DM is another'dynamic mutation'disease, similar to Huntington_disease, that involves the expansion of a nucleotide repeat, this time in a muscle protein_kinase gene. DMD involves a defect in the cytoskeletal protein, dystrophin, which is important for maintaining cell structure. While the gene for Ellis-van_creveld_syndrome has_been_mapped, we await the function of the protein to understand the molecular basis for this disease