Table 2.
Summary of genetic analysis
| Mutation | Number of patients | Number of patients with MH | Number of patients with RM | (Allele with) diagnostic MH mutation | Classification of pathogenicity for MH (or for congenital myopathy in case of a) | Previous report of this case First report; functional characterization |
|---|---|---|---|---|---|---|
| c.1021G > A (p.Gly341Arg) | 5 | 5 | Yes | Pathogenic | Quane [29]; Tong [30] | |
| c.1522G > C (p.Glu508Gln) | 1 | 1 | No | VUS | This report | |
| c.1597C > T (p.Arg533Cys) | 1 | 1 | No | Likely pathogenic | Tammaro [31]; Sato [32] | |
| c.1840C > T (p.Arg614Cys) | 4 | 4 | Yes | Pathogenic | Gillard [33]; Girard [34] | |
| c.1840C > T (p.Arg614Cys) c.14364 + 1G > T (on two alleles) |
1 | 1 | Yes No |
Pathogenic Pathogenic |
Gillard [33] for first mutation Girard [34]/Snoeck [21] for second mutation |
|
| c.1840C > T (p.Arg614Cys) c. 8026C > T (p.Arg2676Trp) (on two alleles) |
1 | 1 | Yes No |
Pathogenic Likely pathogenic |
Gillard [33]; Girard [34] for first mutation Guis (2004) [35] for second mutation |
|
| c.2488C > T (p.Arg830Trp) c.10219G > A (p.Ala3407Thr) (on two alleles) |
1 | 1 | No No |
VUS VUS |
Snoeck [21] Molenaar [36] |
|
| c.4178A > G (p.Lys1393Arg) c.14210G > A (p.Arg4737Gln) (on two alleles) |
1 | 1 | No | VUS Likely pathogenic |
Dlamini [5] Monnier [37]; Gomez [38] |
|
| c.4711A > G (p.Ile1571Val) c.10097G > A (p.Arg3366His) c.11798A > G (p.Tyr3933Cys) (on one allele) |
2 | 2 | No | VUS VUS VUS |
Tammaro [39]; Kraeva [28] Duarte [40]; Kraeva [28] Gillies [41]; Kraeva [28] |
|
| c.6385G > A (p.Asp2129Asn) | 1 | 1 | No | VUS | Dlamini [5] | |
| c.6502G > A (p.Val2168Met) | 1 | 1 | Yes | Pathogenic | Manning [42]; Girard [34] | |
| c.6617C > T (p.Thr2206Met) | 1 | 1 | Yes | Pathogenic | Manning [42]; Murayama [43] | |
| c.6838G > A (p.Val2280Ile) | 1 | 1 | No | Likely benign | Galli [44] | |
| c.7025A > G (p.Asn2342Ser) | 2 | 1 | 1 | No | VUSa | Marchant [45]; Zullo [46] |
| c.7277A > G (p.Tyr2426Cys) | 1 | 1 | No | VUS | Dlamini [5] | |
| c.7300G > A (p.Gly2434Arg) | 5 | 2 | 3 | Yes | Pathogenic | Keating [47]; Girard [34] |
| c.7304G > A (p.Arg2435His) | 1 | 1 | Yes | Pathogenic | Zhang [48]; Avila [49] | |
| c.7361G > A (p.Arg2454His) | 1 | 1 | Yes | Pathogenic | Barone [50]; Murayama [43] | |
| c.8054C > T (p.Ser2685Phe) | 1 | 1 | No | VUS | Scalco [51] | |
| c.8327C > T (p.Ser2776Phe) | 1 | 1 | No | Likely benign | This report | |
| c.10219G > T (p.Ala3407Ser) | 1 | 1 | No | VUS | Molenaar [36] | |
| c.10616G > A (p.Arg3539His) | 1 | 1 | No | VUSa | Dekomien [52] | |
| c.10681G > A (p.Gly3561Arg) | 1 | 1 | No | Likely pathogenic | This report | |
| c.12861_12869dup p.Thr4288_Ala4290dup | 3 | 3 | No | VUS | Levano [53] | |
| c.14545G > A (p.Val4849Ile) | 9 | 9 | Yes | Pathogenic | Jungbluth [6]; Merritt [54] | |
| c.14545G > A (p.Val4849Ile) c.6961A > G (p.Ile2321Val) |
1 | 1 | Yes No |
Pathogenic VUSa |
Jungbluth [55]; Merritt [54] Robinson [56] |
|
| c.14569T > C (p.Phe4857Leu) | 1 | 1 | No | VUS | This report | |
| Total number of patients | 50 | 31 | 19 |
aReported as VUS in a autosomal recessive mode of inheritance