Table 2. Summary of the patients with MDCMD.

	Sex	Current age/ Age of onset	Hypotonia in infancy	Walk independently	Epilepsy	Intelligence	Brain MRI (abnormal white matter signal)	Pathogenic variants in LAMA2
P16	F	31y/6m	p	n	p	mild MR	p	c.624 delC (p.Leu209*) (m)
								c.2209-3_2209–2 delCA (f)
P17^	M	27y/6m	p	n	p	moderate MR	p	c.8654 T>C (p.Leu2885Pro) (m)
								c.2945 insG (p.Ser982Arg fs*16) (f)
P18^	M	#12y/4m	p	n	p	mild MR	p	c.8654 T>C (p.Leu2885Pro) (m)
								c.2945 insG (p.Ser982Arg fs*16) (f)
P19	M	18y/4m	P	n	n	borderline	p	c.6513_6515 delTGT (p.Val2172del) (m)
								c.4311 G>A (p.Gln437Gln) (f)
P20	F	16y/4m	P	p	n	normal	p	c.8989-12 C>G (m)
								c.2451-6 A>G (f)
P21	F	18y/5m	p	n	n	normal	p	c.2049_2050 delAG (p.Arg683Ser fs*21) (m)
								c.1303 C>T (p.Arg435*)

#: the age of death;

^: siblings;

p: present; n: nil; f: father; m: mother