Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence
نویسندگان
چکیده
منابع مشابه
Three-dimensional ultrasonographic appearance of the fetal akinesia deformation sequence.
OBJECTIVE To present the appearance of the fetal akinesia deformation sequence by three-dimensional ultrasonography after four-dimensional ultrasonographic scanning. METHODS Three-dimensional surface-rendering images were used to show the fixed postural abnormalities of the fetal extremities and body. Four-dimensional ultrasonography was used to show that the postural abnormalities were fixed...
متن کاملFetal akinesia deformation sequence: a case report and review of literature
Fetal Akinesia Deformation Sequence (FADS) is a condition characterised by decreased fetal movement (fetal akinesia), multiple joint contractures (arthrogryposis), facial anomalies, intrauterine growth restriction, pulmonary hypoplasia and other developmental abnormalities. These disorders are clinically and genetically heterogenous and its etiology remains unclear. This syndrome is rare and th...
متن کاملIdentification of a novel founder mutation in the DYSF gene causing clinical variability in the Spanish population.
BACKGROUND Mutations in the dysferlin (DYSF) gene cause 3 different phenotypes of muscular dystrophies: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, and distal anterior compartment myopathy. OBJECTIVE To present the results of clinical and molecular analysis of 8 patients with dysferlinopathy from 5 unrelated families. DESIGN Clinical assessment was performed with a standardize...
متن کاملA founder mutation in presenilin 1 causing early-onset Alzheimer disease in unrelated Caribbean Hispanic families.
CONTEXT Genetic determinants of Alzheimer disease (AD) have not been comprehensively examined in Caribbean Hispanics, a population in the United States in whom the frequency of AD is higher compared with non-Hispanic whites. OBJECTIVE To identify variant alleles in genes related to familial early-onset AD among Caribbean Hispanics. DESIGN AND SETTING Family-based case series conducted in 19...
متن کاملA founder mutation causing a severe methylenetetrahydrofolate reductase (MTHFR) deficiency in Bukharian Jews.
Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. A novel homozygous MTHFR c.474A>T (p.G158G) mutation was detected in two unrelated children of Jewish Bukharian origin. This mutation generates an abnormal splicing and early termination codon. A carrier frequency of 1:39 (5/196) was determined among unrelated healthy Bukharian Jews. Given the disease...
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2014
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2014.273