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. 2022 Apr 28;13:2306. doi: 10.1038/s41467-022-30015-1

Fig. 1. Clinical characteristics and genetic findings in ten independent families with HNRNPA2B1 variants.

Fig. 1

a Pedigrees of the 10 families. F family, P patient. Filled red indicates affected individuals with eoOPMD phenotype and heterozygous HNRNPA2B1 frameshift variant. b Patient 1 with c.992delG, p.(G331Efs*28) variant, and patient 7 with c.996_997dupTG, p.(G333Vfs*27) showing prominent ptosis and muscle atrophy. Note the progression of ptosis in patient 7 from 4 years of age to 7 years of age. c hnRNPA2/B1 domain structure with conserved regions. Variants identified from previous studies and in this study (in bold) are indicated in both hnRNPA2 and hnRNPB1 isoforms with their associated phenotypic features. RRM RNA-recognition motif, LCD low complexity domain, M9-NLS M9-nuclear localization signal. d T1 MRI images of the head and lower extremities. Head and neck MRI highlights T1 hyperintensity in the tongue (arrows indicate “bright tongue sign”). In the hips, gluteus maximus (Gm) is selectively affected. In the lower extremities, there is selective involvement of the posterior and medial thigh compartment with relative sparing of the rectus femoris (Rf) and gracilis (Gr) muscle. Lower leg images show relative sparing of the tibialis anterior and selective involvement of the peroneus group (Pr), soleus (So), and lateral gastrocnemius (Lat G).