Muscle Research Unit, Experimental and Clinical Research Center, Charité University Medicine Berlin, Germany.
Ann Neurol. 2010 Jan;67(1):136-40. doi: 10.1002/ana.21839.
We investigated a large German family (n = 37) with male members who had contractures, rigid spine syndrome, and hypertrophic cardiomyopathy. Muscle weakness or atrophy was not prominent in affected individuals. Muscle biopsy disclosed a myopathic pattern with cytoplasmic bodies. We used microsatellite markers and found linkage to a locus at Xq26-28, a region harboring the FHL1 gene. We sequenced FHL1 and identified a new missense mutation within the third LIM domain that replaces a highly conserved cysteine by an arginine (c.625T>C; p.C209R). Our finding expands the phenotypic spectrum of the recently identified FHL1-associated myopathies and widens the differential diagnosis of Emery-Dreifuss-like syndromes.
我们研究了一个有 37 名男性成员的德国家族（n = 37），这些男性成员患有挛缩、僵硬脊柱综合征和肥厚型心肌病。受影响的个体并没有明显的肌肉无力或萎缩。肌肉活检显示出一种具有细胞质体的肌病模式。我们使用微卫星标记物发现与 Xq26-28 上的一个位点连锁，该区域包含 FHL1 基因。我们对 FHL1 进行测序，发现第三个 LIM 结构域内的一个新错义突变，该突变用精氨酸取代了高度保守的半胱氨酸（c.625T>C; p.C209R）。我们的发现扩展了最近发现的与 FHL1 相关的肌病的表型谱，并扩大了 Emery-Dreifuss 样综合征的鉴别诊断范围。
