Molecular Analysis of Nucleic Acids Derived From Patients With Neuromuscular Disease and Their Family Members
The purpose of this study is to identify genes and proteins responsible for neuromuscular disorders by studying genetic material from individuals with neuromuscular disease, as well as their family members. We are interested in recruiting many types of neuromuscular disease including; Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and limb-girdle muscle dystrophy (LGMD). There are still many patients diagnosed with muscular dystrophy with no causative gene implicated in their disease. Using molecular genetics to unravel the biochemical basis of these neuromuscular disorders will lead to more accurate diagnosis/prognosis of these disorders which will lead to potential therapies.
• having a clinical and/or pathological diagnosis of a muscular dystrophy
• being the first degree relative of someone with such a diagnosis
• having had a muscle biopsy if diagnosed with a neuromuscular disease
• willingness to provide a skin biopsy for research only