Congenital myopathy caused by a novel missense mutation in the CFL2 gene
| العنوان: | Congenital myopathy caused by a novel missense mutation in the CFL2 gene |
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| المؤلفون: | A. Dara Hama-Amin, N. van Alfen, Martin Lammens, Charlotte W. Ockeloen, H.J. Gilhuis, Nine V A M Knoers, Rolph Pfundt, Adinda Diekstra, Alan H. Beggs, Erik-Jan Kamsteeg, Pankaj B. Agrawal |
| المصدر: | Neuromuscular disorders, 22(7), 632-639. PERGAMON-ELSEVIER SCIENCE LTD Neuromuscular Disorders, 22, 7, pp. 632-9 Neuromuscular Disorders, 22, 632-9 |
| بيانات النشر: | PERGAMON-ELSEVIER SCIENCE LTD, 2012. |
| سنة النشر: | 2012 |
| مصطلحات موضوعية: | Pathology, Genetics and epigenetic pathways of disease [NCMLS 6], DNA Mutational Analysis, Muscle Proteins, medicine.disease_cause, Muscular Dystrophies, Exon, Nemaline myopathy, Missense mutation, Longitudinal Studies, Child, Genetics (clinical), Muscle Proteins/metabolism, Adenosine Triphosphatases, Genetics, Mutation, Microscopy, Muscular Dystrophies/congenital, Disease gene identification, Neurology, Mutation, Missense/genetics, Skeletal/enzymology, Muscle, Female, SNP array, Cofilin 2, medicine.medical_specialty, DCN MP - Plasticity and memory, Cofilin 2/genetics, Mutation, Missense, Missense/genetics, Biology, Electron, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], Young Adult, Microscopy, Electron, Transmission, Muscle, Skeletal/enzymology, medicine, Renal disorder [DCN MP - Plasticity and memory IGMD 9], Humans, Transmission, Muscle, Skeletal, Actin, Family Health, Adenosine Triphosphatases/metabolism, medicine.disease, Congenital myopathy, Pediatrics, Perinatology and Child Health, Neurology (clinical) |
| الوصف: | Item does not contain fulltext Nemaline myopathy and myofibrillar myopathy are heterogeneous myopathies that both comprise early-onset forms. We present two sisters from a consanguineous Iraqi Kurdish family with predominant axial and limb girdle weakness. Muscle biopsies showed features of both nemaline myopathy and myofibrillar myopathy. We performed homozygosity mapping in both siblings using an Affymetrix 250K Nspl SNP array. One of the overlapping homozygous regions harbored the gene CFL2. Because a mutation in CFL2 was identified in a family with nemaline myopathy, we performed sequence analysis of the gene and a novel homozygous missense mutation in exon 2 (c.19G>A, p.Val7Met) of CFL2 was identified in both siblings. CFL2 encodes the protein cofilin-2, which plays an important role in regulation of sarcomeric actin filaments. To our knowledge, this is the second family in which a mutation in CFL2 causes an autosomal recessive form of congenital myopathy with features of both nemaline and myofibrillar myopathy. Given the clinical variability and the multitude of histological features of congenital myopathies, CFL2 sequence analysis should be considered in patients presenting with an autosomal recessive form of congenital myopathy. 01 juli 2012 |
| اللغة: | English |
| تدمد: | 0960-8966 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7570c7d977be11326d7fef5423fa8eabTest https://research.rug.nl/en/publications/094e66bc-af54-4743-b9fb-df124d4c32c4Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....7570c7d977be11326d7fef5423fa8eab |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 09608966 |
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