A novel mutation in FHL1 in a family with X-linked scapuloperoneal myopathy: phenotypic spectrum and structural study of FHL1 mutations

DH Chen, WH Raskind, WW Parson, JA Sonnen… - Journal of the …, 2010 - Elsevier
An X-linked myopathy was recently associated with mutations in the four-and-a-half-LIM
domains 1 (FHL1) gene. We identified a family with late onset, slowly progressive weakness
of scapuloperoneal muscles in three brothers and their mother. A novel missense mutation
in the LIM2 domain of FHL1 (W122C) co-segregated with disease in the family. The
phenotype was less severe than that in other reported families. Muscle biopsy revealed
myopathic changes with FHL1 inclusions that were ubiquitin-and desmin-positive. This …