Muscle MRI in FHL1-linked reducing body myopathy

Neuromuscul Disord. 2009 Oct;19(10):689-91. doi: 10.1016/j.nmd.2009.06.372. Epub 2009 Jul 17.

Abstract

Reducing body myopathy is a rare progressive myopathy identified by characteristic pathological findings and secondary to dominantly acting mutations in the X-linked FHL1 gene. We report muscle MRI findings in two patients affected by reducing body myopathy and in their carrier mothers. All four showed a distinctive pattern of muscle alteration, with a predominant involvement of postero-medial muscle at thigh level and of soleus at calf level, with a striking sparing of glutei muscles that also appeared to be hypertrophic. These findings may help in the differential diagnosis of these disorders.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Diagnosis, Differential
  • Disease Progression
  • Female
  • Heterozygote
  • Humans
  • Intracellular Signaling Peptides and Proteins / genetics*
  • LIM Domain Proteins
  • Leg / pathology*
  • Magnetic Resonance Imaging
  • Male
  • Mothers
  • Muscle Proteins / genetics*
  • Muscle, Skeletal / pathology*
  • Muscular Diseases / diagnosis
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology*
  • Young Adult

Substances

  • FHL1 protein, human
  • Intracellular Signaling Peptides and Proteins
  • LIM Domain Proteins
  • Muscle Proteins