J Neurol Sci. 2012 Jul 15;318(1-2):163-7. doi: 10.1016/j.jns.2012.04.007. Epub 2012 Apr 27.
Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: an imaging study using computed tomography.
Mutations in the four-and-a-half LIM domains 1 gene (fhl1) are associated with various phenotypes of hereditary myopathies, including reducing body myopathy. We describe here a mother, daughter and son suffering from FHL1 myopathy with a mutation in the second LIM domain of fhl1. We investigated whether there is a characteristic muscle involvement in both sexes. Despite the variety of symptoms exhibited by the male and female patients, the systemic imaging studies showed a similar pattern: the flexor muscles of the brachium and thigh were affected earlier than the extensor muscle with a profound degeneration of the paraspinal muscles. These findings may include one of the characteristic clinical features for suspecting a mutation in the second LIM domain.