Fig. 3From: Clinical and genetic analysis of a case with centronuclear myopathy caused by SPEG gene mutation: a case report and literature reviewTwo mutations in exon 13 of the SPEG gene in the child: c.3715 + 4C > T splicing mutation, derived from the father; c.3588delC frameshift mutation, derived from the mother; her younger sister carries the same mutation siteBack to article page