A large pedigree study confirmed the CGG repeat expansion of RILPL1 Is associated with oculopharyngodistal myopathy

Table 1 Clinical features of affected individuals in the pedigree

Patients	III-25	III-32	III-35	III-37	III-39	III-40	III-42	III-99	IV-3	IV-4	IV-18	IV-24
Sex	F	M	F	F	F	M	M	M	M	M	M	M
Age at onset	39	37	38	40	29	35	28	21	25	29	26	21
Disease duration	21	8	15	12	20	12	13	11	16	10	4	2
Ptosis	+	+	+	+	+	+	+	+	+	+	+	+
Ophthalmoplegia	+	+	+	+	+	+	+	+	+	+	+	+
Bulbar weakness	+	+	+	-	+	+	-	+	+	+	-	-
Distal limb weakness	+	+	+	-	+	+	-	-	+	-	-	-
Proximal limb weakness	+	+	+	-	+	+	-	-	-	-	-	-
Creatine Kinase (U/L)	N/A	299	N/A	N/A	356	N/A	70	55	N/A	N/A	107	N/A
EMG pattern	N/A	Myopathic change	N/A	N/A	Myopathic change	N/A	N/A	Normal	N/A	N/A	N/A	N/A
CGG repeat number	160	N/A	N/A	177	135	145	120	144	137	127	130	N/A

ISSN: 1755-8794