LPIN1 molecular alterations were identified as a major cause of severe recurrent rhabdomyolysis. The prognosis is poor, with a third of patients dying from cardiac arrest during an acute episode. We describe herein a familial case of a young boy and his mother both affected by the same homozygous LPIN1 mutation. The index case experienced a first extremely severe episode of rhabdomyolysis at 14 months of age (creatine kinase 630,000 UI/L) and a second, lethal episode at 3 years of age. His mother had only 1 moderate episode of rhabdomyolysis (creatine kinase 3,050 UI/L) in adulthood. Several cases of sudden death were also reported in the family. To the best of our knowledge, the mother of the index case is, to date, the first patient described harbouring biallelic mutations in LPIN1 and only presenting with a mild phenotype. This report expands the phenotypic spectrum of LPIN1-related rhabdomyolysis, illustrating high intrafamilial variability.
Mol Syndromol

中文翻译：

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LPIN1相关横纹肌溶解的家族内变异性

LPIN1分子改变被确定为严重反复横纹肌溶解的主要原因。预后很差，在急性发作期间有三分之一的患者死于心脏骤停。我们在这里描述一个家族病例，一个男孩和他的母亲都受到相同的纯合LPIN1突变的影响。索引病例在14个月大时经历了第一次严重的横纹肌溶解发作（肌酸激酶630,000 UI / L），在3岁时经历了第二次致命的发作。他的母亲在成年期只有1次中等程度的横纹肌溶解症（肌酸激酶3,050 UI / L）。该家庭还报告了几起猝死案例。据我们所知，索引病例的母亲是迄今为止第一位描述在LPIN1中存在双等位基因突变的患者并且仅表现出轻微的表型。该报告扩大了LPIN1相关的横纹肌溶解的表型谱，说明了高家族内变异性。
摩尔综合症