|
|||||
|
|
Congenital fiber type disproportion myopathy in Lowe syndrome |
|
| Authors: | Jun Kohyama MD Fumio Niimura MD Koichiro Kawashima MD Yoshihide Iwakawa MD Ikuya Nonaka MD |
| Institution: | a Department of Pediatrics; Tsuchiura Kyoudou Hospital;, Ibaraki, Japan b Institute of Special Education; Tsukuba University;, Tsububa, Japan c Department of Pediatrics; Faculty of Medicine; Tokyo Medical and Dental University;, Tokyo, Japan d Division of Ultrastructural Research; National Institute of Neuroscience;, Kodaira, Japan. |
| Abstract: | Two brothers with the typical clinical features of oculo-cerebro-renal syndrome of Lowe exhibited delays in developmental milestones, muscular weakness and hypotonia, and high serum creatine kinase activity. The biopsied muscle revealed selective type 1 fiber atrophy and mild type 1 fiber predominance, similar to that observed in congenital fiber type disproportion myopathy. The abnormal fiber type distribution may be responsible for the common finding of muscle hypotonia in this syndrome. |
| Keywords: | |
| 本文献已被 ScienceDirect 等数据库收录！ | |