title: [Congenital myopathy with type 1 fiber predominance in two children].
abstract: Non-progressive congenital myopathy is a group of muscle diseases occurring at birth or during teenage years. A number of new reports of congenital myopathy, such as homogeneous bodies myopathy, muscle quality control myopathy and type 1 fiber predominance have recently been reported, but they lack of sufficient quantity and constant clinico-pathologic manifestations. This paper reports two cases of congenital myopathy with type 1 fiber predominance confirmed by muscle biopsy. The clinical manifestations of the two children (a 4.5-year-old girl and an 11-year-old boy) included non-progressive symptoms of muscle weakness, skeletal deformities and other clinical features of congenital myopathy. The physical examinations showed a long face or figure and funnel chest or kyphosis/scoliosis, high palatal arch and wing-like shoulder. Serum levels of creatine kinase were normal but slightly elevated serum lactate dehydrogenase levels were noted in the two children. The skeletal muscle biopsy by ATPase staining showed that type 1 fibers accounted for more than 90% of the total number of muscle fibers. No other abnormal pathological changes, such as central cores, muscle tube and central nuclei, were found in the two children.
authors.affiliation: Department of Neurology, Xiangya Hospital, Central South University, Changsha 410008, China.
authors.forename: Meng-Chuan
authors.initials: MC
authors.lastname: Luo
authors.forename: Qiu-Xiang
authors.initials: QX
authors.lastname: Li
authors.forename: Wei-Fan
authors.initials: WF
authors.lastname: Yin
authors.forename: Wei-Wei
authors.initials: WW
authors.lastname: Duan
authors.forename: Fang-Fang
authors.initials: FF
authors.lastname: Bi
authors.forename: Ning
authors.initials: N
authors.lastname: Zhang
authors.forename: Jing-Hui
authors.initials: JH
authors.lastname: Liang
authors.forename: Huan
authors.initials: H
authors.lastname: Yang
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D020914:Myopathies, Structural, Congenital / Q000175:diagnosis* / Q000473:pathology / Q000628:therapy