Table 1.

Clinical characteristics of the patients included in this study.

Patient	Mutation	Onset	Pattern of Muscle Weakness	Muscle Atrophy	Creatin-Kinase (CK) Level
p1	Heterozygous c.320C>T; p.(Ser107Leu) Published in [12]	Congenital	Pronounced paresis of distal leg muscles	Calf atrophy, pes cavus	600–650 U/L
p2	Heterozygous c.1195C>T; p.(Arg399Cys)	Early adulthood	Severe paresis pronounced in proximal and distal leg muscles, mild paresis of proximal and distal arm muscles, MRI: adductor muscles spared	Proximal and distal leg muscles	200–300 U/L
p3 (son of p4)	Heterozygous c.2189G>A; p.(Arg730His)	Early childhood	Distal paresis of leg muscles	Distal leg muscles	200–600 U/L
p4 (father of p3)	Heterozygous c.2189G>A; p.(Arg730His)	Early childhood	Distal paresis of leg muscles	Distal leg muscles (right >>left)	600–650 U/L
p5 (mother of p6)	BICD2: heterozygous c.1904G>T; p.(Arg635Leu), FLNC: heterozygous c.2272G>A; p.(Val758Met)	Early childhood	Pronounced paresis of distal leg muscles, slight proximal paresis of arms and legs	Distal leg muscles and shoulder muscles	150–200 U/L
p6 (daughter of p5)	BICD2: heterozygous c.1904G>T; (p.Arg635Leu), FLNC: heterozygous c.2272G>A; (p.Val758Met)	Early childhood	Pronounced paresis of distal leg muscles, slight proximal paresis of arms and legs, hyperlordosis	Distal leg muscles	50–100 U/L
p7	BICD2: heterozygous c.2452A>G; p.(Lys818Glu), COL6A1: heterozygous c.1694G>A; p.(Arg565Gln)	Late adulthood	Proximal paresis of the lower limb muscles	Thigh muscles	200–300 U/L