PMC10348831_01
Key features of limb girdle muscular dystrophy type R9/2I (FKRP myopathy). (A) Tongue hypertrophy. (B) Calf hypertrophy. (C) Diffuse streaking of thigh musculature, with generalized fatty replacement
rkad059f1.jpg
PMC10348831_01_rkad059f1.jpg
rkad059-F1
Physical examination revealed short stature, subtle facial weakness, low-set ears, small jaw, tongue hypertrophy, fifth finger clinodactyly and calf hypertrophy (Fig. 1A and B). Further evaluation with MRI of the lower limbs (Fig. 1C) raised concern about limb girdle muscular dystrophy (LGMD), and additional genetic testing confirmed homozygosity for a pathogenic variant, c.826C>A p.(Leu276ile) in the FKRP gene, causative of LGMD type R9/2I (LGMDR9/2I).