Table 1

Clinical features of patients with autosomal dominant core disease and ACTA1 mutations

Patient	Sex	Current age (years)	Clinical onset	Delayed motor milestones	Muscle weakness distribution	Facial weakness	Cardiomyopathy	Respiratory insufficiency	Skeletal abnormalities	Evolution
Abbreviations: female (F), male (M), lower extremities (LE), upper extremities (UE).
Family 1
II:2	M	73	7 years: slow gait	–	Mild: global	–	–	–		Stable
II:4	F	70	8 years: slow gait	–	Moderate: proximal UE	Mild	–	–	Mild scoliosis	Improvement
II:6	F	66	5 years: slow gait	–	Moderate: global	Mild	–	–	Mild scoliosis	Stable
II:8	F	62	7 years: slow gait	–	Mild: proximal UE, trunk	Moderate	–	–	Mild scoliosis, high arched palate	Improvemnent
III:3	M	41	8 years: slow gait	–	Mild: proximal E, trunk	–	–	–	Mild scoliosis, genu varum	Stable
III:9	F	39	Infancy	Walked at 3 years	Moderate: proximal E, trunk	Moderate	–	–	Moderate scoliosis, high arched palate	Stable
III:12	F	39	4 years: slow gait	–	Mild: proximal LE	–	–	–	Mild scoliosis	Stable
IV:3	F	15	6 years: slow gait	–	Mild: proximal LE	–	–	–	Mild scoliosis, moderate scapular winging, genu valgum	Stable
IV:11	M	13	7 years: waddling gait	–	Mild: proximal LE	–	–	–	Funnel chest	Stable
IV:13	M	11	2 years: slow gait and severe intoeing	Walked at 2 years	Mild: proximal LE, post-exertional myalgia	Mild	–	–	Joint hyperlaxity, femoral anteversion, internal tibial torsion, scapular winging, high arched palate	Improvement
Family 2
II:6	M	49	Infancy	Walked at 6 years	Mild: global; LE>UE	Mild	Hypertrophic cardiomyopathy	49 years: global, nocturnal respiratory support	Funnel chest, flat feet	Stable
II:2	M	35	Infancy	Walked at 5 years	Mild: global	Mild	Hypertrophic cardiomyopathy	32 years: global, nocturnal respiratory support	Joint hyperlaxity, flat feet, scoliosis, funnel chest, high arched palate	Stable
III:4	F	5	Infancy	Walked at 2 years	Mild: LE	–	–	–	Joint hyperlaxity, high arched palate	Stable
III:2	M	18	Infancy	–	Mild: global	Mild	–	–	Funnel chest, flat feet	Stable