期刊
NEUROMUSCULAR DISORDERS
卷 20, 期 6, 页码 390-396出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2010.03.009
关键词
Filaminopathy; Filamin C; lg-like repeat; Myofibrillar myopathy; Desmin related myopathy; Limb-girdle muscular dystrophy
Filaminopathy represents a rare subgroup of myofibrillar myopathies caused by mutation in filamin C gene. We present a Chinese family with filaminopathy, characterized by onset at the age of 35-40 years with progressive muscle weakness in all limbs. Mild cardiac symptoms and chronic diarrhea were present in a few patients. Muscle biopsy revealed numerous spheroid bodies and amorphous deposits in the fibers, which were positive for desmin, dysferlin, dystrophin and ubiquitin, but negative for alpha-actinin and alpha-synuclein. Ultrastructural analysis revealed inclusions composed of disorganized thin filaments and interspersed electron-dense granules, accumulating in spheroid or cytoplasmic structures. A novel complex mutation of 18-nucleotide deletion and 6-nucleotide insertion was identified in exon 18 of the filamin C gene, resulting in an in-frame 6 amino acid deletion (Lys899-Va1904) and a 2 amino acid insertion (Val 899-Cys900) in the seventh Ig-like repeat of filamin C. Our findings expand the genetic spectrum and geographic distribution of filaminopathy. (C) 2010 Elsevier B.V. All rights reserved.
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