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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene.

Mutations in the lamin A/C gene (LMNA) have been associated with neuromuscular diseases and more complex syndromes, involving bone and adipose tissue. We report on a case of early onset myopathy due to a heterozygous LMNA mutation in exon 9, characterized by the presence of a marked number of cytoplasmic bodies with extensive myofibrillar abnormalities and Z-disk disruption in skeletal muscle. This case suggests there is a need to increase the list of genes to be screened in patients with myofibrillar myopathy.[1]

References

  1. Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene. D'Amico, A., Benedetti, S., Petrini, S., Sambuughin, N., Boldrini, R., Menditto, I., Ferrari, M., Verardo, M., Goldfarb, L., Bertini, E. Neuromuscul. Disord. (2005) [Pubmed]
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