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Hereditary myopathy with early respiratory failure is caused by mutations in the titin FN3 119 domain

Carola Hedberg, Atle Melberg, Kathe Dahlbom, Anders Oldfors
DOI: http://dx.doi.org/10.1093/brain/awt305 e270 First published online: 14 November 2013

Sir, Hereditary myopathy with early respiratory failure (HMERF) is a neuromuscular disease associated with aggregation of various proteins in muscle fibres and muscle degeneration (Fig. 1) and was described in detail in several families by Edström et al. (1990). Linkage analyses indicated that the disease locus was in the distal part of the long arm of chromosome 2 (Nicolao et al., 1999). Titin was a candidate gene and a missense variant that segregated with the disease in …

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