TABLE 1.

Demographic data of VWA1‐patients included in our study. For patient seven, only the muscle biopsy was included. These seven patients were already part of the gene discovery study. ⁵

VWA1 patients
Family	Individual	Genetic defect	Age of onset (years)	Age at last visit (years)	Clinical findings at last visit
1	1	VWA1: c.62_71dup c.879del compound heterozygous	3	16	Weakness of foot dorsiflexion with difficulties of standing on heels and bilateral pes equinus
	2		2	20	Weakness of foot dorsiflexion with difficulties of standing on heels and bilateral congenital pes equinovarus
2	3	VWA1: c.252del homozygous	43	66	Weakness of foot dorsiflexion with difficulties of standing on heels, proximal and distal leg weakness and proximal arm muscle weakness
	4		54	55	Weakness of foot dorsiflexion with difficulties of standing on heels
	5		46	62	Weakness of foot dorsiflexion with difficulties of standing on heels
	6		41	48	Weakness of foot dorsiflexion with difficulties of standing on heels, proximal and distal leg weakness & proximal arm muscle weakness
3	7	VWA1: c.62_71dup homozygous	40	46	Weakness of foot dorsiflexion with difficulties of standing on heels and bilateral pes cavus