Abstract:
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Communication n° 411. One form of congenital myopathy, the centronuclear myopathy (CNM) is a rare neuromuscular disorder mainly characterized by delayed motor milestones, facial and muscular weakness, ptosis and ophtalmoplegia. The characteristic muscle histopathology findings include centrally located nuclei and a typical radial arrangement of sarcoplasmic strands around the central nuclei. Mutations of the gene MTM1 coding for the myotubularin are responsible for the severe myotubular myopathy, the X-linked form of centronuclear myopathy, but genes responsible for the autosomal forms of CNM remained, so far, unknown. To characterize the genetic basis of autosomal dominant CNM, we performed a whole-genome screening of two large well-characterized families. We found three markers on chromosome 19p13 statistically linked to the disease in the two families. Using additional flanking microsatellite markers, we identified affected recombinants and defined a 11 Mb interval linked to the disease, including more than 200 genes. Analysis of candidate genes mapped to this locus is in progress and will be presented.
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