Intrafamilial Variability in <b><i>LPIN1</i></b>-Related Rhabdomyolysis
نویسندگان
چکیده
منابع مشابه
A novel PKP2 mutation and intrafamilial phenotypic variability in ARVC/D
Background: Arrhythmogenic ventricular cardiomyopathy (AVC) is an inherited cardiac disorder affecting 1 in 1000 individuals worldwide. The mean diagnosed age of disease is 31 years. In this article, an Iranian family reported that they were affected by ARVC due to a novel PKP2 mutation. Methods: Clinical evaluations, 12-lead ECG, CMR, and signal-averaged ECG were performed. After...
متن کاملIntrafamilial phenotypic variability in four families with Anderson-Fabry disease.
We analysed the clinical history of 16 hemizygous males affected by Anderson-Fabry Disease, from four families, to verify their intrafamilial phenotypic variability. Seven male patients, ranging from 26 to 61 years of age, died, whereas nine (age range 23-55) are alive. Eleven patients have undergone enzyme replacement therapy (ERT) for a period of 5-10 years. We have found a wide range of intr...
متن کاملIntrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.
OBJECTIVES/HYPOTHESIS Enlarged vestibular aqueduct (EVA) and hearing loss are known to be caused by SLC26A4 mutations, but large phenotypic variability exists among patients with biallelic SLC26A4 mutations. Intrafamilial phenotypic variability was analyzed in multiplex EVA families carrying biallelic SLC26A4 mutations to identify the contribution of SLC26A4 mutations and other genetic or envir...
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Rhabdomyolysis is a life threatening syndrome. It accounts for an estimated 8% to 15% of cases of acute renal failure and is associated with a mortality rate of 5%. In movement disorders, various causes of rhabdomyolysis have been reported including status dystonicus, myoclonus, generalized chorea and parkinsonism-hyperprexia syndrome in Parkinson's disease (PD). Levodopa-induced dyskinesia lea...
متن کاملAuthor's response to reviews Title:Intergenerational and Intrafamilial Phenotypic Variability in 22q11.2 Deletion syndrome Subjects Authors:
Emilia Cirillo ([email protected]) Giuliana Giardino ([email protected]) Vera Gallo ([email protected]) Pamela Puliafito ([email protected]) Chiara Azzari ([email protected]) Rosa Bacchetta ([email protected]) Fabio Cardinale ([email protected]) Maria Pia Cicalese ([email protected]) Rita Consolini ([email protected]) Silvana Martino (s...
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ژورنال
عنوان ژورنال: Molecular Syndromology
سال: 2020
ISSN: 1661-8769,1661-8777
DOI: 10.1159/000507719