Table 1 Clinical findings in 24 affected individuals from eight families with a molecular diagnosis of OPDM due to CCG repeat expansions in the 5′-UTR of ABCD3

From: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry

ID	Repeat length	Sex	Age at last follow-up (decade)	Age of onset (decade)	First symptom	Ptosis	Ophthalmoparesis	Facial weakness	Distal LL weakness	Distal UL weakness	Proximal LL weakness	Proximal UL weakness	Dysphagia	Dysarthria	Muscle biopsy: vacuoles	Muscle biopsy: p62 intranuclear inclusions	Intranuclear inclusions on EM	CK levels (IU/L)
AUS1-V:3	130	M	41–50	31–40	Ptosis	Yes	Yes	No	No	No	No	No	No	No	N/A	N/A	N/A	N/A
AUS1-V:4	120	M	41–50	41–50	Ptosis	Yes	No	No	No	No	No	No	No	No	N/A	N/A	N/A	N/A
AUS1-IV:3	143	M	71–80	41–50	Ptosis	Yes	Yes	Yes	No	No	No	No	Yes	Yes	N/A	N/A	N/A	N/A
AUS1-III:3	N/A	F	71–80	Nov–20	Ptosis	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes	N/A	N/A	N/A
AUS3-II:1	230	M	61–70	Nov–20	Ptosis	Yes	Yes	Yes	Yes	Yes	N/A	N/A	Yes	Yes	Yes	None	N/A	321
AUS3-III:2	129	F	21−30	N/A	Ptosis	Yes	No	No	No	No	No	No	No	No	N/A	N/A	N/A	N/A
AUS2- IV:2	617	F	61–70	21–30	Ptosis	Yes	Yes	Yes	Yes	Yes	Yes	No	Yes	Yes	No	None	No	N/A
AUS2- V:24	129	M	21–30	N/A	ptosis	Yes	N/A	N/A	yes	N/A	N/A	N/A	N/A	N/A	N/A	N/A	N/A	257
AUS2-IV:10	208	M	51–60	21–30	Ptosis	Yes	Yes	Yes	Yes (mild)	Yes	No	No	Yes	Yes	N/A	N/A	N/A	N/A
AUS2-IV:3	324	F	61–70	Nov–20	Ptosis	Yes	Yes	Yes	Yes	Yes (mild)	Yes	Yes	Yes	Yes	Yes	None	No	N/A
AUS2-IV:13	N/A	M	41–50	21–30	Ptosis/unable to jump	Yes	Yes	Yes	Yes	Yes (mild)	Yes	No	Yes	Yes	N/A	N/A	N/A	348
AUS2-V:25	N/A	M	31–40	N/A	Ptosis (mild)	Yes	No	No	No	No	No	No	No	No	N/A	N/A	N/A	N/A
AUS2-V:27	N/A	M	31–40	0–10	Ptosis	Yes	No	Yes	Yes	Yes	No	No	Yes	N/A	N/A	N/A	N/A	N/A
AUS2-V:20	N/A	F	21–30	21–30	Ptosis	Yes	No	No	No	Yes (mild)	No	No	No	No	N/A	N/A	N/A	N/A
AUS2-IV:14	N/A	M	51–60	31–40	Dysphagia	Yes	Yes	Yes	Yes	Yes	Yes (mild)	No	Yes	Yes	N/A	N/A	N/A	N/A
AUS2-IV:4	381	F	61–70	N/A	Ptosis	Yes	N/A	Yes	Yes	N/A	N/A	N/A	N/A	N/A	Yes	None	No	N/A
UK1-II:1	381	F	51–60	Nov–20	Ptosis	Yes	Yes	yes	yes	Yes	No	No	Yes	No	Yes	None	N/A	142
UK2-III:1	231	F	51–60	31–40	Ptosis	Yes	Yes	Yes	Yes	Yes	Yes	No	Yes	No	N/A	N/A		N/A
UK2-III:2	218	M	41–50	Nov−20	Ptosis	Yes	Yes	Yes	Yes	Yes	Yes	No	Yes	Yes	No	None	N/A	259
FR1-II:1	243	F	41–50	Nov–20	Ptosis	Yes	No	Yes	Yes (severe)	Yes (mild)	Yes	Yes	Yes	Yes	Yes	N/A	No	233
FR2-II:2	560	F	61–70	21–30	Ptosis	Yes	Yes	Yes	Yes (severe)	Yes	Yes	Yes	Yes	Yes	Yes	N/A	N/A	377
FR2-I:2	118	F	died at 81–90	N/A	N/A	Yes	N/A	N/A	Yes	Yes	Yes	Yes	Yes	Yes	N/A	N/A	N/A
FR2-II:1	300	M	Died at 61–70	N/A	N/A	Yes	N/A	N/A	N/A	N/A	N/A	N/A	Yes	N/A	N/A	N/A	N/A	N/A
FR3-II:1	233	F	31–40	21–30	Ptosis and nasal voice	Yes	Yes	Yes	Yes	Yes	No	No	Yes	Yes	Yes	Yes	N/A	289

EM electron microscopy, LL lower limb, UL upper limb.

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Table 1 Clinical findings in 24 affected individuals from eight families with a molecular diagnosis of OPDM due to CCG repeat expansions in the 5′-UTR of ABCD3

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