title: Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: an imaging study using computed tomography.
abstract: 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.
authors.affiliation: Department of Neurology, Dokkyo Medical University, Tochigi, Japan. tkoma@dokkyomed.ac.jp
authors.forename: Tomoko
authors.initials: T
authors.lastname: Komagamine
authors.forename: Mitsuru
authors.initials: M
authors.lastname: Kawai
authors.forename: Norito
authors.initials: N
authors.lastname: Kokubun
authors.forename: Satoko
authors.initials: S
authors.lastname: Miyatake
authors.forename: Katsuhisa
authors.initials: K
authors.lastname: Ogata
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Koichi
authors.initials: K
authors.lastname: Hirata
mesh_terms: D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins / Q000235:genetics*; D007564:Japan; D060588:LIM Domain Proteins / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009124:Muscle Proteins / Q000235:genetics*; D018482:Muscle, Skeletal / Q000473:pathology* / Q000503:physiopathology; D009135:Muscular Diseases / Q000235:genetics*; D014057:Tomography, X-Ray Computed / Q000379:methods; D055815:Young Adult
chemical_list: C101149:FHL1 protein, human; D047908:Intracellular Signaling Peptides and Proteins; D060588:LIM Domain Proteins; D009124:Muscle Proteins