Table 1.
Summary of some studies performed in a diagnosis setting. NMD: Neuromuscular Disorder; CMT: Charcot-Marie-Tooth disease; CMD: Congenital Muscular Dystrophy; LGMD: limb-girdle muscular dystrophy
| Author | Approach | Disease | Number of genes | Number unrelated patient | Number definitive diagnosis (%) | Number potential diagnosis, further test required (%) |
| Vasli et al. [7] | Exonic Custom Panel ”NMD-seq” | NMD | 267 | 8 | 4 (50%) | |
| Choi et al. [25] | Exome associated with data filtering of selected genes | CMT | 50 | 25 * | 8 (32%) | |
| Lim et al. [10] | Genomic Custom Panel | CMD with defective glycosylation of alphadystroglycan | 26 | 4 | 2 (50%) | 1 (25%) |
| Nemeth et al. [23] | Exonic Custom Panel | Ataxia | 42 ** | 50 * | 9 (18%) | |
| Savarese et al. [26] | Exonic Custom Panel “MotorPlex” | Non syndromic muscle disorders | 93 | 177 * | 52 (29%) | 56 (32%) |
| Bartoli et al. [27] | Exome associated with data filtering of selected genes | LGMD and distal myopathies | 39 | 37 * | 6 (16%) | |
| Fogel et al. [24] | Clinical Exome | Ataxia | 76 * | 16 (21%) | 30 (40%) | |
| Klein et al. [29] | Exome associated with data filtering of selected genes | Polyneuropathies | 74 | 15 * | 5 (33%) | 3 (20%) |
| Ankala et al. [32] | Exonic Custom Panel | NMD | 41 | 81 | 37 (46%) | |
| CMD | 12 | 88 | 32 (36%) | |||
| LGMD | 11 | 96 | 25 (26%) | |||
| Chae et al. [31] | Exonic Custom Panel | Early onset NMD | 579 ** | 43 * | 21 (49%) | 7 (16%) |
| Drew et al. [30] | Exome associated with data filtering of selected genes | Peripheral neuropathies | 75 | 110 * | 9 (8%) | 12 (11%) |
| Sevy et al. [28] | Exonic Custom Panel | NMD | 298 | 17 * | 2 (12%) | 6 (35%) |
*: patients for whom the best candidate geneshave been previously excluded and in particular: 17p12duplication/deletion and 3 major CMT genes: GJB1, MPZ, MFN2for the 25 patients enrolled by Choi et al.; SCA1,2,3,6,7and FXN for the 50 and 76 patients enrolled respectively byNemeth et al. and Fogel et al.; DYSF gene for the 37patients enrolled by Bartoli et al.; SMN1, DMD, MTM1 andDM1 genes for the 43 patients enrolled by Chae et al.;PMP22, MPZ, GJB1, MFN2, SPTLC1 and SPTLC2 for the110 patients enrolled by Drew et al. **: Nemeth andcolleagues included 76 supplementary candidate genes and Chae andcolleagues included candidate genes not reported as pathogenic intheir respective panels.