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Novel Nonsense Mutation in < b > < i > SLC39A13 < /i > < /b > Initially Presenting as Myopathy: Case Report and Review of the Literature
Myopathies comprise a heterogeneous group of disorders characterized by variable phenotypes. The increasing use of next-generation sequencing allows identification of the causative genes in a much higher percentage of patients with hereditary muscle disorders and also illustrates a considerable degree of overlap with other clinical entities, including connective tissue disorders. Here, we present a 14-year-old German patient who was initially suspected to suffer from myopathy based on his clinical, radiological, and muscle biopsy findings. Exome sequencing revealed a novel homozygous nonsense mutation in theSLC39A13gene, c...
Source: Molecular Syndromology - January 23, 2018 Category: Molecular Biology Source Type: research
