北美人群中的肢带型肌营养不良2I型
LGMD2I in a North American population.
作者信息
Kang Peter B, Feener Chris A, Estrella Elicia, Thorne Marielle, White Alexander J, Darras Basil T, Amato Anthony A, Kunkel Louis M
机构信息
Program in Genomics, Children's Hospital Boston and Harvard Medical School, Boston, USA.
出版信息
BMC Musculoskelet Disord. 2007 Nov 24;8:115. doi: 10.1186/1471-2474-8-115.
Abstract
BACKGROUND
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).
METHODS
We screened the FKRP gene in two cohorts totaling 87 patients with the LGMD phenotype.
RESULTS
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.
CONCLUSION
These findings suggest that LGMD2I may be common in certain North American populations. This diagnosis should be considered early in the evaluation of LGMD.
摘要
背景
与FKRP基因突变相关的临床表型存在显著差异，范围从严重的先天性肌营养不良到2I型肢带型肌营养不良（LGMD2I）。
方法
我们在两个队列中对总共87例LGMD表型患者的FKRP基因进行了筛查。
结果
6例患者存在c.826C>A、p.L276I突变，第7例患者存在复合杂合子突变。6例患者具有轻度LGMD2I表型，类似于贝克型肌营养不良。另一名患者在3岁前发病，因此可能病情更为严重。
结论
这些发现表明LGMD2I在某些北美人群中可能很常见。在LGMD评估中应尽早考虑这一诊断。
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