Skip to main content
Fig. 4 | Acta Neuropathologica Communications

Fig. 4

From: Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study

Fig. 4

Cartoon representation of the human RyR1 structure. Front and top views of RyR1 tetramer assembly. Different colors represent each monomer. On right side, isolated RyR1 monomer colored by functional domains with mutations noted and grouped accordingly (frameshift mutations not shown). New mutations modelled in silico are wrote in red and marked with * when predicted as pathogenic, in green marked with # when benign

Back to article page