title: Muscle MRI in FHL1-linked reducing body myopathy.
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.
authors.affiliation: Department of Developmental Neuroscience, Stella Maris Scientific Institute, Pisa, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Astrea
authors.forename: J
authors.initials: J
authors.lastname: Schessl
authors.forename: E
authors.initials: E
authors.lastname: Clement
authors.forename: M
authors.initials: M
authors.lastname: Tosetti
authors.forename: E
authors.initials: E
authors.lastname: Mercuri
authors.forename: M
authors.initials: M
authors.lastname: Rutherford
authors.forename: G
authors.initials: G
authors.lastname: Cioni
authors.forename: C G
authors.initials: CG
authors.lastname: Bönnemann
authors.forename: F
authors.initials: F
authors.lastname: Muntoni
authors.forename: R
authors.initials: R
authors.lastname: Battini
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D003937:Diagnosis, Differential; D018450:Disease Progression; D005260:Female; D006579:Heterozygote; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D060588:LIM Domain Proteins; D007866:Leg / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D009035:Mothers; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology*; D009135:Muscular Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D055815:Young Adult
chemical_list: C101149:FHL1 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D060588:LIM Domain Proteins; D009124:Muscle Proteins