Selective muscle involvement in a family affected by a second LIM domain mutation of fhl1: An imaging study using computed tomography

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• 作者：Tomoko Komagamine^a ; ^{tkoma@dokkyomed.ac.jp} ; Mitsuru Kawai^b ; Norito Kokubun^a ; Satoko Miyatake^b ; Katsuhisa Ogata^b ; Yukiko K. Hayashi^c ; Ichizo Nishino^c ; Koichi Hirata^a
• 关键词：CK ; creatine kinase ; CT ; computed tomography ; EDMD ; Emery-Dreifuss muscular dystrophy ; FHL1 ; four-and-a-half LIM domains 1 ; MRC ; Medical Research Council ; MRI ; magnetic resonance imaging ; NBT ; nitroblue tetrazolium ; RBM ; reducing body myopathy
• 刊名：Journal of the Neurological Sciences
• 出版年：2012
• 期刊代码：178_0022510x
• 类别：med
• 出版时间：15 July, 2012
• 卷：318
• 期：1-2
• 页码：163-167
• 文件大小：499 K

摘要

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.