A variant of congenital muscular dystrophy.

摘要

We analyzed three Japanese patients (two boys and a girl) from two families with congenital muscular dystrophy (CMD) and brain involvement. One of the two families had two affected siblings of different sexes. Parental consanguinity was not documented in either family. All patients showed generalized hypotonia and weakness from infancy, delayed psychomotor development, facial muscle involvement, and joint contractures. Serum creatine kinase levels were markedly elevated. The histological change seen on muscle biopsy was characteristic of a dystrophic process, although dystrophin and merosin staining were normal. On MR imaging, cortical dysplasia and cerebral white matter abnormalities were observed. Although these clinical, myopathological and neuroradiological findings were typical of Fukuyama-type CMD (FCMD), full mutational analysis of the fukutin gene revealed neither a 3 kb insertion (Japanese founder mutation) nor point mutations. RT-PCR analysis of RNA isolated from lymphoblasts of a patient revealed normal expression of the FCMD transcript. As classification of CMD should be based on genetic background, our present cases with typical clinical, myopathological and neuroradiological findings of FCMD without mutation of the fukutin gene may represent a new variant (or variants) of CMD that is different from FCMD.