伴有严重头后仰和智力发育迟缓的先天性肌营养不良：两例同胞病例报告
Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings.
作者信息
Nashef L, Lake B D, Schapira A H
机构信息
Kent and Canterbury Hospital, Department of Neurology, London, UK.
出版信息
J Neurol Neurosurg Psychiatry. 1997 Mar;62(3):279-81. doi: 10.1136/jnnp.62.3.279.
Abstract
Two siblings with a congenital muscular dystrophy and severe mental retardation which was not due to dystrophin, merosin, or adhalin deficiency are described. These cases overlap with congenital muscular dystrophy of the Fukuyama-type but are less severe. Atypical features include limited facial involvement, retained ambulation, and severe retrocollis.
摘要
本文描述了两名患有先天性肌营养不良且伴有严重智力障碍的兄弟姐妹，其智力障碍并非由肌营养不良蛋白、merosin或整合素缺乏所致。这些病例与福山型先天性肌营养不良有重叠，但症状较轻。非典型特征包括面部受累有限、仍可行走以及严重的颈后伸。
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