LGMD2I in a North American population.
LGMD2I in a North American population.
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DOI：
10.1186/1471-2474-8-115
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发表时间：
2007-11-24
影响因子：
2.3
通讯作者：
Kunkel, Louis M
中科院分区：
文献类型：
--
作者：
Kang, Peter B;Feener, Chris A;Estrella, Elicia;Thorne, Marielle;White, Alexander J;Darras, Basil T;Amato, Anthony A;Kunkel, Louis M
与 FKRP 突变相关的临床表型存在显着差异，范围从严重的先天性肌营养不良症到 2I 型肢带型肌营养不良症 (LGMD2I)。我们在两个队列中筛选了 FKRP 基因，该队列共有 87 名具有 LGMD 表型的患者。六名患者中存在 c.826C>A、p.L276I 突变，第七名患者中存在复合杂合子突变。六名患者具有轻度 LGMD2I 表型，类似于贝克型肌营养不良症。另一名患者在 3 岁之前发病，因此可能会经历更严重的病程。这些发现表明 LGMD2I 在某些北美人群中可能很常见。在评估 LGMD 时应尽早考虑这一诊断。
There is a marked variation in clinical phenotypes that have been associated with mutations in FKRP, ranging from severe congenital muscular dystrophies to limb-girdle muscular dystrophy type 2I (LGMD2I). We screened the FKRP gene in two cohorts totaling 87 patients with the LGMD phenotype. The c.826C>A, p.L276I mutation was present in six patients and a compound heterozygote mutation in a seventh patient. Six patients had a mild LGMD2I phenotype, which resembles that of Becker muscular dystrophy. The other patient had onset before the age of 3 years, and thus may follow a more severe course. These findings suggest that LGMD2I may be common in certain North American populations. This diagnosis should be considered early in the evaluation of LGMD.