Table 1.

Clinical data

Patient	Molecular findings	Age of onset/age at clinical examination (years)	Sex	Family history	CK values	Facial weakness	Scapular fixator weakness	Humeral muscles weakness	Abdominal muscle weakness	Pelvic girdle weakness	Anterior forelegs weakness	Asymmetry
P1	FSHD1 (Mosaic)	35/44	F	Sporadic case	N	No	Yes	Yes	Yes	No	Yes	Yes
P2	FSHD1 (Hybrid allele)	15/48	F	Daughter affected	N	Yes	Yes	Yes	Yes	Yes	Yes	Yes
P3	FSHD2	25/43	M	Sporadic case	x1	Yes	Yes	No	No	No	Yes	Yes
P4	FSHD2	37/60	M	Sporadic case	x1	Yes	Yes	Yes	Yes	No	Yes	No
P5	FSHD2	30/45	M	Sporadic case	x2	Yes	Yes	Yes	Yes	No	No	Yes
P6	FSHD2	32/42	M	Sporadic case	x2	Yes	Yes	Yes	Yes	Yes	Yes	Yes
P7	FSHD2	25/51	M	Sporadic case	x2	Yes	Yes	Yes	Yes	Yes	Yes	Yes
P8	FSHD2	35/41	F	Sporadic case	x2	Yes	Yes	Yes	Yes	Yes	Yes	Yes
P9	LGMD2A	25/42	F	Sporadic case	x3	Yes	Yes	Yes	Yes	Yes	Yes	No
P10	LGMD2A	25/37	M	Sporadic case	x4	Yes	Yes	Yes	Yes	Yes	Yes	No
P11	LGMD2A	40/60	F	Sporadic case	x2	Yes	Yes	Yes	No	Yes	Yes	No
P12	LGMD2A	20/51	F	Sporadic case	x2	Yes	Yes	Yes	No	Yes	Yes	No
P13	VCP gene mutation	30/55	M	Father affected	x3	No	Yes	No	Yes	Yes	Yes	Yes
P14	VCP gene mutation	35/59	M	?	x4	Yes	Yes	Yes	No	Yes	Yes	No
P15	Unknown	25/46	M	Sporadic case	x4	Yes	Yes	Yes	Yes	No	No	Yes
P16	Unknown	30/52	M	Sporadic	x6	Yes	Yes	Yes	No	No	Yes	Yes

N: Normal CK values (90–200 IU/L); Clinical features corresponding to inclusion criteria are highlighted in bold.