Loss‐of‐function mutations in SGCE found in Japanese patients with myoclonus‐dystonia
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DOI: 10.1111/cge.14233
Abstract: SGCE myoclonus‐dystonia is a monogenic form of dystonia with an autosomal dominant mode of inheritance that co‐occurs with a myoclonic jerk. In this study, we present 12 Japanese patients from nine families with this disease.… read more here.
Keywords: mutations sgce; function mutations; loss function; japanese patients ... See more keywords