Cabrera-Serrano M, Fabian V A, Boutilier J, Wise C, Faiz F, Lamont P J, Laing N G
Centre for Medical Research, University of Western Australia, Harry Perkins Institute of Medical Research, Perth, Western Australia, Australia.
Instituto de Biomedicina de Sevilla, Hospital Universitario Virgen del Rocío/CSIC/Universidad de Sevilla, Seville, Spain.
Clin Genet. 2015 Dec;88(6):573-8. doi: 10.1111/cge.12552. Epub 2015 Jan 20.
An MYH2 mutation p.(Glu706Lys) was originally described in a family with autosomal dominant inheritance, where the affected family members presented with multiple congenital contractures and ophthalmoplegia, progressing to a proximal myopathy in adulthood. Another patient with a dominant mutation p.(Leu1870Pro) was described, presenting as a congenital myopathy with ophthalmoplegia. Here, we present a patient with symptoms beginning at age 16 years, of prominent distal but also proximal weakness, bulbar involvement and ophthalmoplegia. Initially, clinically classified as oculopharyngodistal myopathy, the patient was found to carry a novel, de novo MYH2 mutation c.5630T>C p.(Leu1877Pro). This expands the phenotype of dominant MYH2 myopathies with the clinical phenotype overlapping the oculopharyngodistal myopathy spectrum.
一种MYH2突变p.(Glu706Lys)最初是在一个常染色体显性遗传家族中被描述的，该家族中受影响的家庭成员表现为多处先天性挛缩和眼肌麻痹，并在成年后发展为近端肌病。另一名患有显性突变p.(Leu1870Pro)的患者被描述为患有伴有眼肌麻痹的先天性肌病。在此，我们报告一名患者，其症状始于16岁，表现为明显的远端肌无力，但也有近端肌无力、延髓受累和眼肌麻痹。最初，该患者临床上被分类为眼咽远端肌病，后来发现其携带一种新的、从头发生的MYH2突变c.5630T>C p.(Leu1877Pro)。这扩展了显性MYH2肌病的表型，其临床表型与眼咽远端肌病谱重叠。
