Learn More
BACKGROUND Myofibrillar myopathies (MFM) are a group of phenotypically and genetically heterogeneous neuromuscular disorders, which are characterized by protein aggregations in muscle fibres and can be associated with multisystemic involvement. METHODS We screened a large cohort of 38 index patients with MFM for mutations in the nine thus far known(More)
We identified the first homozygous and hence recessive mutation in the myotilin gene (MYOT) in a family affected by a severe myofibrillar myopathy (MFM). MFM is a rare, progressive and devastating disease of human skeletal muscle with distinct histopathological pattern of protein aggregates and myofibrillar degeneration. So far, only heterozygous missense(More)
  • M Jeffery, G Iba, M Hornell, K Prendergast, J B Carroll, Richmond +14 others
  • 1980
References 1. Brotsky, D. Efficient graph matching through exploitation of constraint. A three-step procedure for language generation. M.I.T.A. Philosophical foundations for a linguistically oriented semantic network (in preparation). 9. Meldman, J. A preliminary study in computer-aided legal analysis. The commonsense algorithm as a basis for computer(More)
  • 1