Mercuri E, D'Amico A, Tessa A, Berardinelli A, Pane M, Messina S, van Reeuwijk J, Bertini E, Muntoni F, Santorelli F M
Eugenio Mercuri Department of Paediatric Neurology, Child Neurology Unit, Catholic University, Rome, Italy.
Neuromuscul Disord. 2006 Jul;16(7):446-8. doi: 10.1016/j.nmd.2006.03.016. Epub 2006 May 15.
Mutations in POMT2 have so far only been reported in patients with Walker-Warburg phenotype. We report heterozygous POMT2 mutations in an a girl with a milder phenotype characterized by mental retardation, microcephaly, hypertrophy of the quadriceps and calf muscles, and structural brain changes mostly affecting the posterior fossa. Our findings suggest that, as previously reported for POMT1 and FKRP, mutations in the POMT2 can also be associated with clinical heterogeneity.
迄今为止，仅在患有沃克-沃尔堡综合征（Walker-Warburg syndrome）的患者中报道过POMT2基因突变。我们报告了一名女童存在杂合性POMT2基因突变，其临床表现为轻度症状，包括智力发育迟缓、小头畸形、股四头肌和小腿肌肉肥大，以及主要影响后颅窝的脑部结构改变。我们的研究结果表明，正如先前关于POMT1和FKRP的报道一样，POMT2基因突变也可能与临床异质性有关。
