指纹体肌病：一对双胞胎的病例报告。

Fingerprint body myopathy: a report of twins.

作者信息

Curless R G, Payne C M, Brinner F M

出版信息

Dev Med Child Neurol. 1978 Dec;20(6):793-8. doi: 10.1111/j.1469-8749.1978.tb15312.x.

DOI:10.1111/j.1469-8749.1978.tb15312.x

Abstract

Ultramicroscopic changes of subsarcolemmal fingerprints in the muscle of children with infantile hypotonia and weakness may represent a specific congenital entity. Four children have been reported so far. The two children reported in the present paper are the first full siblings to be described and, in addition, are identical twins. Four of these six children also had mental retardation, which suggests that this disorder may carry with it a significant risk of central nervous system abnormality.

摘要

婴儿期肌张力减退和肌无力患儿肌肉中肌膜下指纹的超微结构改变可能代表一种特定的先天性疾病。迄今为止已报道了4例患儿。本文报道的2例患儿是首次描述的同胞全手足，此外还是同卵双胞胎。这6例患儿中有4例还伴有智力发育迟缓，这表明这种疾病可能伴有中枢神经系统异常的重大风险。