Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

Table 1 Summary of the clinical features of the affected individuals within each family, not described previously

ID	Consang	Case	Age at presentation	Delivery	Age (Age at death)	Birth weight (g)	Fetal akinesia/hypokinesia	Arthrogryposis	Fractures	Hydrops	Polyhydramnios	Spontaneous movements at birth	Facial movement	Orogastric Tube	Motor Milestones	Respiratory Insufficiency
16	yes	II:1	birth	C/S (35wg)	7w	1,660	yes	AMC	yes	no	yes	absent	no	yes	none	yes
20	yes	II:VI	birth	C/S (37wg)	(<1w)	NI	NI	NI	NI	NI	NI	NI	NI	NI	n/r	NI
14	no	II:2	birth	C/S	5 m	3,196	yes	no	no	no	no	hypotonic	yes	yes	delayed	yes
6	yes	II:1	birth	C/S (30wg)	(3w)	1,345	NI	AMC	no	NI	NI	absent	yes	no	n/r	yes
6	yes	II:3	32wg	C/S (36wg)	(4w)	2,345	yes	AMC	no	yes	yes	absent	yes	no	n/r	yes
8	no	II:1	25wg	in utero demise	(26wg)	NI	yes	AMC	no	yes	NI	n/r	yes	n/r	n/r	n/r
8	no	II:3	29wg	in utero demise	(29wg)	970	yes	AMC	no	no	yes	n/r	no	n/r	n/r	n/r
13	no	II:2	birth	C/S (38wg)	5^9/12y	3, 200	yes	no	yes	no	no	hypotonic	yes	no	delayed	no
9	yes	II:1	19 wg	TOP (19wg)	n/r	NI	NI	AMC	no	yes	NI	n/r	NI	n/r	n/r	n/r
		II:2	16wg	TOP (16wg)	n/r	98	yes	AMC	no	yes	yes	n/r	yes	n/r	n/r	n/r
		II:3	16wg	TOP (16wg)	n/r	95	yes	AMC	no	yes	yes	n/r	yes	n/r	n/r	n/r
10	no	II:1	20 wg	C/S (37wg)	(4w)	2,820	yes	AMC	no	no	yes	hypotonic	yes	yes	n/a	yes
10	no	II:2	16wg^a	TOP (17wg)	n/r	n/r	no	AMC	no	no	NI	n/r	NI	n/r	n/r	n/r
15	no	II:2	NI	NI	8y	NI	NI	DA	no	NI	NI	normal	no	no	normal	no
1	no	II:2	birth	C/S	4y	3504	yes	DA2A	no	no	no	normal	yes	yes	delayed	no
11	no	I:2	birth	C/S	NI	NI	no	DA2B	no	no	no	yes	no	no	NI	no
		II:1	antenatal	C/S	NI	3,410	no	DA2B	no	no	no	yes	no	no	normal	no

C/S caesaeran section, TOP termination of pregnancy, wg weeks gestation, NI no information, n/r not relevant, ^a prenatal diagnosis

ISSN: 1750-1172