Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies

Figure 1

(a) Dry skin with ichthyosis in the younger sibling at the age of 3 years. (b) Dry skin with nummular eczema in the elder sibling at the age of 8 years. (c) Sanger confirmation of the mutation. Both affected siblings are homozygous and both parents are heterozygous carriers for R344Q mutation. (d) The conservation of the homozygous missense mutation within the vertebrates (http://www.ebi.ac.uk/Tools/msa/clustalw2/).

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