Table 1.

Clinical features of autosomal recessive DES cases

	Munoz-Marmol et al. [10] & Ariza et al. [9]; Pinol-Ripoll et al. [18]	Goldfarb et al. [6]	Arbustini et al. [4]	Cetin et al. [5]	Henderson et al. [11]	McLaughlin et al. [7]	Harada et al. [8]	This study
DES variants (NM_001927.3)	c.[521_541del]; [521_541del]	c.[1078 G > C]; [1178 A > T]	c.[46 C > T]; [46 C > T]	c.[1289-2 A > G]; [1289- 2 A > G]	c.[226delA]; [322 G > T]	c.[600delG]; [1285 C > T]	c.[655 A > C]; [655 A > C]	c.[569 T > C]; [1289-741 G > A]
	p.[(Ala174_Arg180del)]; [(Ala174_Arg180del)]	p.[(Ala360Pro)]; [(Asn393Ile)]	p.[(Arg16Cys)]; [(Arg16Cys)]	p.[(Arg429_Glu430ins16)]; [(Arg429_Glu430ins16)]	p.[(Thr76Profs*22)]; [(Glu108*)]	p. [(Lys201Argfs*20)]; [(Arg429*)]	p.[(Thr219Pro)]; [(Thr219Pro)]	p.[(Leu190Pro)]; [(Thr431Serfs*43)]
Age of onset	15 y; infancy	2 y, 9 y, 10 y	NR	15 y, 27 y	Early childhood	Early childhood	13 y	25–29 y
Myopathy	Yes	Yes	Yes	Yes	Yes	Yes	Yes	Yes
	Generalised weakness, distal atrophy;	Progressive weakness/ wasting		Limb girdle weakness/wasting	Limb girdle weakness/fatigue	Limb girdle weakness	Limb weakness/ wasting	Limb girdle weakness/wasting
Cardiomyopathy	Yes	Yes	Yes	No	No	Yes	Yes	Yes
	Restrictive, Atrioventricular block	Atrioventricular block	Restrictive, Atrioventricular block			Dilated	Hypertrophic	Dilated
Muscle biopsy
Aggregates	Yes	Yes	Yes	No	No	NR	Yes	No
Myofibrillar disarray	Yes	NR	NR	No	Yes	NR	NR	Yes
Fibre splitting	Yes	NR	NR	Yes	Yes	NR	NR	Yes
Dystrophic appearance	Atrophic	NR	NR	Dystrophic	NR	NR	Atrophic	Dystrophic
Central nuclei	Yes	NR	NR	Yes	Yes	NR	NR	Yes

NR not reported