Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy
Psycho-organic symptoms as early manifestation of adult onset POMT1-related limb girdle muscular dystrophy
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DOI：
10.1016/j.nmd.2014.06.440
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发表时间：
2014-11-01
影响因子：
2.8
通讯作者：
Lochmueller, H.
中科院分区：
文献类型：
--
作者：
Haberlova, J.;Mitrovic, Z.;Lochmueller, H.
我们报告了克罗地亚近亲健康父母的两个兄弟姐妹，他们在POMT1基因中有一种新的纯合错义突变，表现为智力残疾和精神病，特别是幻觉症状和异常的脑mri，比肢体带状肌肉萎缩症的典型症状早几年。在成年早期，虚弱变得明显，兄弟姐妹在生命的第三和第四个十年中都能行走。肌肉活检显示与POMT1缺陷相容的α -糖代谢障碍减少。本病例报告将与POMT1相关的肌营养不良症的表型谱扩展到伴有心理-器质性缺陷的成人发病肢带肌营养不良症。(C) 2014 Elsevier B.V.版权所有
We report two siblings of Croatian consanguineous healthy parents with a novel homozygous missense mutation in the POMT1 gene, presenting with intellectual disability and psychotic, in particular hallucinatory symptoms and abnormal brain MRIs, preceding classical symptoms of limb-girdle muscular dystrophy by several years. Weakness became apparent in early adulthood and both siblings remained ambulant into the 3rd and 4th decade of life. The muscle biopsy showed reduced alpha-dystroglycan compatible with the POMT1 defect. This case report extends the phenotypic spectrum of POMT1 associated muscular dystrophies to the adult onset limb girdle muscular dystrophies with psycho-organic deficits. (C) 2014 Elsevier B.V. All rights reserved.