Autosomal Dominant ANO5-Related Disorder Associated With Myopathy and Gnathodiaphyseal Dysplasia
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DOI: 10.1212/nxg.0000000000000612
Abstract: Objective To investigate the molecular basis of muscle disease and gnathodiaphyseal dysplasia (GDD) in a large kindred with 11 (6 women and 5 men) affected family members. Methods We performed clinical assessment of 3 patients… read more here.
Keywords: gnathodiaphyseal dysplasia; related disorder; muscle; ano5 related ... See more keywords