Department of Neurology, University of Erlangen, Schwabachanlage 6, 91054 Erlangen, Germany.
Neuromuscul Disord. 2013 Jul;23(7):587-90. doi: 10.1016/j.nmd.2013.04.008. Epub 2013 Jun 6.
Primary laminopathies caused by mutations in the LMNA gene typically display an extremely pleiotropic clinical presentation including cardiac, muscular and metabolic phenotypes. Additionally, many atypical laminopathies have been described combining features of two or more of the distinctive disorders or syndromes associated with LMNA mutations. We report on a 46-year-old female patient with a heterozygous p.R28W LMNA mutation, who presented with a novel clinical phenotype comprising severe limb-girdle muscular dystrophy, pronounced partial lipodystrophy, cardiac conduction defect, polycystic ovary disease and a metabolic syndrome with insulin-resistant diabetes mellitus and hypertriglyceridemia. On examination, her 23-year old daughter solely showed early signs of a LGMD phenotype.
由 LMNA 基因突变引起的原发性层板病通常表现出极其多样的临床表现，包括心脏、肌肉和代谢表型。此外，已经描述了许多非典型的层板病，这些疾病结合了与 LMNA 突变相关的两种或多种独特疾病或综合征的特征。我们报告了一位 46 岁的女性患者，她携带杂合的 p.R28W LMNA 突变，表现出一种新的临床表型，包括严重的肢带型肌肉营养不良、明显的部分脂肪营养不良、心脏传导缺陷、多囊卵巢疾病和代谢综合征，伴有胰岛素抵抗性糖尿病和高三酰甘油血症。在检查中，她 23 岁的女儿仅表现出 LGMD 表型的早期迹象。
