Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature review
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DOI: 10.1186/s12887-021-02656-6
Abstract: Background Centronuclear myopathy (CNM), a subtype of congenital myopathy (CM), is a group of clinical and genetically heterogeneous muscle disorders. Since the discovery of the SPEG gene and disease-causing variants, only a few additional patients… read more here.
Keywords: speg gene; case; centronuclear myopathy; gene ... See more keywords