Fig. 2

Schematic representation of the LAMA2 gene structure and localization of identified LAMA2 nonsense mutations that are listed in the public version of HGMD. Two classifications, homozygous and heterozygous state, of LAMA2 nonsense mutations scattered along the coding sequence containing 65 exons (only those containing nonsense mutations are described and marked in black) are shown in patients with severe or milder phenotype of CMD (in dark blue) and patients with mild myopathy (in light blue). Nonsense mutations listed in HGMD are shown in black. Mutations of the second allele are illustrated in the following manner: nonsense (in red), frameshift (in green), missense (in yellow), splice site (in purple), and in-frame deletion (in grey). [?] refers to an unknown second mutation from the other allele due to using classical tests that could not identify the second mutation in the proband. The asterisk (*) refers to the novel mutation identified in our Moroccan patient. cDNA reference sequence that has been used to identify these mutations was NM_000426.3