Muscle MRI in FHL1-linked reducing body myopathy

G. Astrea, J. Schessl, E. Clement, M. Tosetti, E. Mercuri, M. Rutherford, G. Cioni, C. G. Bönnemann, F. Muntoni, R. Battini

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)689-691
Number of pages3
JournalNeuromuscular Disorders
Volume19
Issue number10
DOIs
Publication statusPublished - Oct 2009

Keywords

  • FHL1
  • Muscle MRI
  • Reducing body myopathy
  • Rigid spine disorder

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

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