Fig. 3
From: Polyglucosan body myopathy 1 may cause cognitive impairment: a case report from China
RBCK1 gene mutations and decreased expression of HOIL-1 and HOIP proteins. a RBCK1 gene homozygous missense mutation was found in the patient. The verification of related gene mutations in the family is shown. Red arrows represent mutation positions. P, patient; F, father; M, mother; S, sister; HOM, homozygous; HET, heterozygous; N, no mutation. b Low levels of HOIL-1 and HOIP protein expression in skeletal muscle tissues from patients (P) and controls (C1 and C2)