Fee Dominic B, Harmelink Matthew, Monrad Priya, Pyzik Erika
Department of Neurology, Medical College of Wisconsin, Milwaukee, WI.
J Clin Neuromuscul Dis. 2017 Sep;19(1):27-30. doi: 10.1097/CND.0000000000000173.
Limb-girdle muscular dystrophy 2S (LGMD2S) is an autosomal recessive condition due to mutations in the TRAPPC11 gene. It is recently described with only 9 prior reported individuals. In addition to the muscular dystrophy, some affected individuals have small head size, global developmental delay, seizures, cataracts, and liver problems. Siblings with an uncharacterized LGMD were assessed; whole-exome screening revealed compound heterozygous mutations in the TRAPPC11 gene. Their presentation helps confirm the emerging phenotype for LGMD2S.
肢带型肌营养不良2S型（LGMD2S）是一种常染色体隐性疾病，由TRAPPC11基因突变引起。最近仅有9例此前报道的个体病例。除了肌营养不良外，一些受影响个体还存在小头畸形、全面发育迟缓、癫痫、白内障和肝脏问题。对患有未明确类型LGMD的兄弟姐妹进行了评估；全外显子组筛查发现TRAPPC11基因存在复合杂合突变。他们的表现有助于确认LGMD2S新出现的表型。
