Table 2.

Summary of studies included in the narrative review

Nº	Author	Country	Year	Type of disease	N exome	N positive exome	Dx yield %	Ref
Diagnostic yield of exome in populations with clinically different NMD
1	Tsang	China	2020	Heterogeneous group of NMD	50	13	26	[22]
2	Herman	USA	2021	Heterogeneous group of NMD	79	37	47	[23]
3	Waldrop	USA	2019	Heterogeneous group of NMD*	31	12	39	[24]
4	Fattahi	Iran	2017	Heterogeneous group of NMD Consanguinity 58%	37a	27	73	[25]
5	Kuperberg	Israel	2016	Heterogeneous group of non-diagnosed neurological diseases	11	7	64	[26]
Diagnostic yield of exome in congenital muscular dystrophy and congenital myopathy
6	Masri	Jordan	2022	Congenital muscular dystrophy Consanguinity 73%	44	19	43	[27]
7	Schofield	Australia	2017	Congenital dystrophy and congenital muscular dystrophy	26	16	61	[28]
8	Vill	Germany	2017	Early-onset myopathies	12	8	67	[29]
9	O’Grady	Australia	2016	Congenital muscular dystrophy	22	12	54	[30]
10	Lee	Korea	2017	Nemaline myopathy	15	7	47	[31]
Diagnostic yield of exome in muscular dystrophy
11	Yis	Turkey	2018	Limb-girdle muscle dystrophy	7	7	100	[32]
12	Zamani	Iran	2022	Duchenne muscular dystrophy	40	36	90	[33]
13	Luce	Argentine	2018	Duchenne muscular dystrophy	38	36	94	[34]
14	Božović	Slovenia	2021	Muscular diseases	22	14	64	[35]
Diagnostic yield of exome in hereditary neuropathies
15	Walsh	Australia	2017	Hereditary neuropathies	15	7	47	[36]
Diagnostic yield of exome in prenatal and neonatal age
16	Todd	Australia	2015	NMD detected at prenatal and neonatal age	23	13	56	[37]
17	Heude	France	2021	Patients with neonatal respiratory distress	5	1	20	[38]

Dx yield: diagnostic yield; N, number of cases studied; WES, whole exome sequencing

*Trio exome