Fig. 3.
Clinical picture of the male proband. Note the dystrophic appearance, absence of subcutaneous fat (weight 13.1 kg), muscle hypotrophy, and valgus deformity of the knees.
Clinical picture of the male proband. Note the dystrophic appearance, absence of subcutaneous fat (weight 13.1 kg), muscle hypotrophy, and valgus deformity of the knees.