NEUROMUSCULAR BANK OF TISSUES AND DNA SAMPLES

The purpose of keeping a neuromuscular tissue bank is for 1) provide tissue to Telethon researchers with a diagnosis in myopathies at molecular level; 2)for patients presymptomatic molecular diagnosis or carrier detection; 3) prenatal diagnosis for relatives; 4) diagnostic quality assurance of banked tissue samples stored. We have stablished since 1982 a large collection of over 6000 muscle biopsies which covers most human muscle pathology. In addition since 1994 we are collecting in the same facility DNA from patients ore relatives for genetic analysis. The purpose of such service is to provide information about the pathogenesis of a muscle disease, provide muscle tissue for researchers, evaluate the possibility of new mutations, establish the diagnosis of a carrier state. An important expansion of knowledge on protein defects in muscular dystrophies has been done in the last few years therefore a continuos update has been kept in our bank involving molecular screening for these new defects in the collected biopsies. In this three year project we plan to expand our services and computerize information of banked tissue samples and the origin of samples that may be banked. We share this information with a network of collaborating European bank in France, Spain and Germany. This collection of human biopsied samples constitutes an unique opportunity for genetic research including a source for new molecular discoveries and future studies by microchip arrays on human tissues.