Table 1. Clinical data.

							Distribution of weakness
Patient	Gender	FSHD1 diagnostic result (D4Z4 repat units)	CK valuea	Age at onset	Age at data ascertainment	First affected musclesb	Facial muscles	Shoulder girdle	Abdominal muscles	Lower extremity	Asymmetry	Muscle biopsy
FSHD2-08	m	>10	2.6	43	44	Lower legs	Yes	Yes	Yes	Yes	No	—
FSHD2-10	f	>10	5.3	20	22	Arms	Yes	Yes	Yes	No	Yes	Signs of myositis
FSHD2-13	f	>10	1.5	55	64	Lower legs	Yes	Yes	Yes	Yes	Yes	Myositic/myogenic and neurogenic changes
FSHD2-28	f	>10	2.2	24	32	Shoulder girdle	Yes	Yes	Yes	No	Yes	Myopathic pattern, no inflammation
FSHD2-38	f	>10	5.4	40	47	Shoulder girdle	Yes	Yes	Yes	Yes	Yes	Dystrophic pattern with inflammatory infiltration
FSHD2-82	f	>10	1.1	25	74	Shoulder girdle	No	Yes	No	Yes	No	—
FSHD2-89	f	10	1.0	11	21	Shoulder girdle	Yes	Yes	No	No	Yes	—
FSHD2-92	m	10	1.9	20	55	Lower legs	Yes	Yes	Yes	Yes	Yes	Dystrophic pattern
FSHD2-120	f	>10	1.0	30	40	Arms	Yes	Yes	Yes	Yes	—	Dystrophic pattern
FSHD2-130	m	>10	2.9	30	41	Arms	Yes	Yes	Yes	Yes	Yes	Myopathic pattern
FSHD2-131	m	>10	2.3	60	75	Arms	No	Yes	No	Yes	Yes	Myopathic pattern, desmin accumulation

Abbreviations: f, female; FSHD, facioscapulohumeral muscular dystrophy; m, male; —, no information available.

^aCK (creatine kinase) value given as multiples of upper normal.

^bSubjective estimation of the patient.