Introduction
Materials and methods
Sample collection
Clinical evaluations
Molecular analysis
Exon No. | Primer sequences 5′ to 3′ direction | Primer length | Product length | GC% | TM(˚c) |
---|---|---|---|---|---|
1 Forward | ACTTATAGCATCTGACACCAGAGG | 24 bp | 956 | 45.8 | 69.6 |
1 Reverse | AAATTTCTCCAGGGCTTCATG | 21 bp | 956 | 42.9 | 72.1 |
2 Forward | TGAAGCCCTGGAGAAATTTCTG | 22 bp | 956 | 45.5 | 74.1 |
2 Reverse | GCAAACTACAAAGCAGCCATG | 20 bp | 956 | 47.6 | 72.2 |
In Silico analysis
Patient No. | Sex | Age | symptom | Final results of Echocardiogram (ECG) | |||||||
---|---|---|---|---|---|---|---|---|---|---|---|
IVSD (cm) | PWd (cm) | LVIDs (cm) | LVIDd (cm) | LVEF (%) | LAD (cm) | LVOTO ± | SAM ± | ||||
1 | F | 60 | Hypertension/palpitations | 2.1 | 1 | 2.8 | 4.4 | 60 | 4 | – | – |
2 | F | 32 | Palpitations/dyspnea/fatigue/chest pain/syncope/anemia | 1.1 | 0.9 | – | 4.4 | 40–45 | – | – | – |
3 | M | 16 | Palpitations/dyspnea/fatigue/chest pain/gastrointestinal disorder/high cholesterol/allergy | 3.2 | 0.9 | 3.45 | 4.29 | 60 | 3 | – | + |
4 | M | 58 | Chest pain/hypertension/high cholesterol/muscular pain | 1.6 | 0.86 | 3.9 | 5.3 | 20 | 4.5 | N/A | N/A |
5 | F | 43 | Palpitations/dyspnea/abdominal edema/ischemia | 1.5 | 0.91 | 3.52 | 4.65 | 15–20 | 5.2 | – | – |
6 | M | 8 | Hypertension/palpitations | 2.2 | 1 | 2.6 | 4.4 | 40–45 | 4.1 | – | – |
7 | F | 28 | Fatigue/palpitations/hypertension | 2.2 | N/A | N/A | N/A | 45 | N/A | N/A | – |
8 | F | 30 | Hypertension/dyspnea/fatigue | 1.8 | 0.7 | 2.5 | 4.3 | 45–50 | 3.1 | N/A | – |
9 | M | 26 | Chest pain/dyspnea | 0.9 | 0.8 | 5.8 | 6.8 | 10 | 4.1 | – | – |
10 | F | 7 | Musculoskeletal disorder/Infectious disease | N/A | N/A | N/A | N/A | 10–15 | N/A | N/A | N/A |
11 | F | 10 | Dyspnea/palpitations/kidney problem | N/A | N/A | 5.6 | 6.2 | 10 | N/A | N/A | N/A |
12 | M | 37 | Cardiovascular disease/respiratory disease | 0.8 | 0.8 | 5.8 | 6.4 | 10 | N/A | N/A | N/A |
13 | M | 24 | Hypertension/high blood lipid/high triglyceride/fatigue/palpitations/dyspnea/fainting | 0.9 | 0.9 | 6.1 | 7.7 | 15 | 4.7 | N/A | N/A |
14 | M | 2 | Dyspnea/fatigue/chest pain/hypertension/liver disease/cardiac edema | 1.5 | N/A | N/A | N/A | 55 | N/A | N/A | N/A |
Data extraction
Genetic variant distribution
Results
Clinical features
Family history
Genetic analysis and bioinformatics findings
No. | Patient No | Nucleotide change | Amino Acid Change | Location | Zygosity | rs | Varsome | MutationTaster | Provean | SIFT | CADD | References |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | DCM1 | No mutation found | – | – | – | – | – | – | – | – | – | – |
2 | DCM2 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
3 | DCM3 | No mutation found | – | – | – | – | – | – | – | – | – | – |
4 | DCM4 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
5 | DCM5 | c.453A > C | p.Ala151 = | Exon 2 | Het | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
6 | DCM6 | No mutation found | – | – | – | – | – | – | – | – | – | – |
7 | DCM7 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
8 | DCM8 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
9 | DCM9 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
10 | DCM10 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
11 | DCM11 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
12 | DCM12 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
13 | DCM13 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
14 | DCM14 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
15 | DCM15 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
16 | DCM16 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
17 | DCM17 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
18 | DCM18 | No mutation found | – | – | – | – | – | – | – | – | – | – |
19 | DCM19 | No mutation found | – | – | – | – | – | – | – | – | – | – |
20 | DCM20 | No mutation found | – | – | – | – | – | – | – | – | – | – |
No. | Patient No. | Nucleotide change | Amino Acid Change | Location | Zygosity | rs | Varsome | MutationTaster | Provean | SIFT | CADD | References |
---|---|---|---|---|---|---|---|---|---|---|---|---|
1 | HCM1 | c.453A > C | p.Ala151 = | Exon 2 | Het | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
2 | HCM2 | c.316C > T | p.Arg106Cys | Exon 1 | Het | rs45578741 | Benign | polymorphism | Deleterious | Damaging | 28.8 | [17] |
c.453A > C | p.Ala151 = | Exon 2 | Het | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] | ||
3 | HCM3 | No mutation found | – | – | – | – | – | – | – | – | – | – |
4 | HCM4 | No mutation found | – | – | – | – | – | – | – | – | – | – |
5 | HCM5 | c.453A > C | p.Ala151 = | Exon 2 | Het | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
6 | HCM6 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [18] |
7 | HCM7 | c.453A > C | p.Ala151 = | Exon 2 | Het | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [18] |
8 | HCM8 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [18] |
c.110 + 48C > T | – | Intron 1 | Het | rs2941510 | Benign | polymorphism | – | – | 6.243 | [18] | ||
9 | HCM9 | No mutation found | – | – | – | – | – | – | – | – | – | – |
10 | HCM10 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
11 | HCM11 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
12 | HCM12 | No mutation found | – | – | – | – | – | – | – | – | – | – |
13 | HCM13 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
c.111–42G > A | – | Intron 1 | Homo | – | Uncertain Significance | polymorphism | – | – | 3.473 | This study | ||
14 | HCM14 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
15 | HCM15 | c.453A > C | p.Ala151 = | Exon 2 | Homo | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
16 | HCM16 | c.453A > C | p.Ala151 = | Exon 2 | Het | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
17 | HCM17 | c.453A > C | p.Ala151 = | Exon 2 | Het | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
18 | HCM18 | c.453A > C | p.Ala151 = | Exon 2 | Het | rs1053651 | Benign | polymorphism | Neutral | Tolerated | 10.92 | [16] |
19 | HCM19 | No mutation found | – | – | – | – | – | – | – | – | – | – |
20 | HCM20 | No mutation found | – | – | – | – | – | – | – | – | – | – |
Genetic variant distribution and genotype
No. | DNA Change | AA Change | Variant Type | Location | RS |
---|---|---|---|---|---|
1 | c.-178G > T | Splicing | 5' UTR | rs931992 | |
2 | c.32C > A | p.Ser11Ter | Nonsense | Exon 1 | rs45495192 |
3 | c.453A > C | p.Ala151 = | Synonymous | Exon 2 | rs1053651 |
4 | c.53G > A | p.Arg18Gln | Missense | Exon 1 | rs45614536 |
5 | c.145G > A | p.Glu49Lys | Missense | Exon 2 | rs45513698 |
6 | c.421C > G | p.Pro141Ala | Missense | Exon 2 | rs45509691 |
7 | c.75G > A | p.Trp25Ter | Nonsense | Exon 1 | rs778851652 |
8 | c.157C > T | p.Gln53Ter | Nonsense | Exon 2 | rs104894655 |
9 | c.637–640delGG | Deletion | Exon 2 | – | |
10 | c.172C > T | p.Gln58Ter | Nonsense | Exon 2 | – |
11 | c.37–39delGAG | p.Glu13del | Deletion | Exon 1 | – |
12 | c.208C > T | p.Arg70Trp | Missense | Exon 2 | rs775636212 |
13 | c.269C > T | p.Pro90Leu | Missense | Exon 2 | rs727504427 |
14 | c. 226C > T | p.Arg76Cys | Missense | Exon 2 | rs572836774 |
15 | c.244C > T | p.Gln82Ter | Nonsense | Exon 2 | – |
16 | c.255C > A | p.Tyr85Ter | Nonsense | Exon 2 | – |
17 | c.316C > T | p.Arg106Cys | Missense | Exon 2 | rs45578741 |
18 | c.388C > T | p.Arg130Cys | Missense | Exon 2 | rs374886575 |
19 | c.472C > A | p.Arg158Ser | Missense | Exon 2 | rs397516863 |
20 | c.493C > G | p.Gln165Glu | Missense | Exon 2 | rs397516865 |
21 | c.410C > T | p.Thr137Ile | Missense | Exon 2 | rs773317399 |
22 | c.458G > A | p.Arg153His | Missense | Exon 2 | rs149585781 |
23 | c.395A > C | p.Glu132Gln | Missense | Exon 2 | – |
24 | c.472C > T | p.Arg158Cys | Missense | Exon 2 | rs397516863 |
25 | c.90–91del | p.Ser31HisfsX11 | Deletion | Exon 1 | rs1555606976 |
26 | c.26–33dupAGGTGTCG | p.Arg12fsX31 | Duplication | Exon 1 | rs778568339 |
27 | c.45–46delTG | p.Cys15Ter | Deletion | Exon 1 | – |
28 | c.100delC | p.Glu35Argfs*33 | Deletion | Exon 1 | – |
29 | c.166insG | p.Gln56Argfs*52 | Insertion | Exon 2 | – |
30 | c.496–499delAGAG | p.Arg166AlafsTer21 | Deletion | Exon 2 | – |
31 | c.171C > G | p.Cys57Trp | Missense | Exon 2 | rs369447207 |
32 | c.109–110delGG | p.Gly37Leufs | Deletion | Exon 1 | – |
33 | c.110 + 5G > A | Intronic | Intron 1 | – | |
34 | c.25–31dup | p.Ser11Ter | Duplication | Exon 1 | rs863224933 |
35 | c.66G > A | p.Trp22Ter | Nonsense | Exon 1 | rs141019458 |
36 | c.*76G > T | Splicing | 3’UTR | rs45506294 | |
37 | c.34dup | p.Glu12fs | Duplication | Exon 1 | rs1555606959 |
48 | c.43–49dup | p.Arg17delinsLeuTer | Duplication | Exon 1 | rs886044421 |
39 | c.103G > T | p.Glu35Ter | Nonsense | Exon 1 | rs779699520 |
40 | c.110_110 + 1del | Deletion | Exon 1 | rs786205076 | |
41 | c.136_137del | p.Gln46Glufs*3 | Deletion | Exon 2 | rs2057249899 |
42 | c.166C > T | p.Gln56Ter | Nonsense | Exon 2 | – |
43 | c.110 + 1G > A | Intronic | Intron 1 | – | |
44 | c.14–15del | p.Glu5fs | Deletion | Exon 1 | – |
Genotype | Protein change | Zygosity | Patient no. | Family | Phenotype | Consanguinity | Ethnicity | Sex | Age on onset | HT | DT | SW | CT | FW | CD | Proximal Limb’s weakness | distal Limb’s weakness | Other clinical presentations | References |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
c.32C > A/c.–178G > T/c.453A > C | p.Ser11Ter/-/p.Ala151 = | Homo/Hetero/Hetero | 1 | 1 | LGMD-2G | Yes | Indian | M | 2 y | + calves | ND | + | + ankle | + | ND | ND | ND | mild foot drop, progressive pectoral girdle | [19] |
c.32C > A/c.–178G > T/c.453A > C | p.Ser11Ter/-/p.Ala151 = | Homo/homo/homo | 1 | 1 | LGMD-2G | Yes | Indian | F | 8 y | + calves | ND | + | + ankle | + | ND | ND | ND | Wheelchair-bound state, mild foot drop, progressive pectoral girdle | [19] |
c.32C > A/c.–178G > T/c.453A > C | p.Ser11Ter/-/p.Ala151 = | Homo/homo/homo | 1 | 1 | LGMD-2G | Yes | Indian | F | 8 y | + calves | ND | + | + ankle | + | ND | ND | ND | Ambulant, mild foot drop, progressive pectoral girdle | [19] |
c.1630G > A | p.Arg18Gln | Hetero | 1 | 2 | IDC | ND | Caucasian | ND | ND | ND | ND | ND | ND | ND | + | ND | ND | [20] | |
c.1968G > A | p.Glu49Lys | Hetero | 1 | 3 | IDC | ND | Caucasian | ND | ND | ND | ND | ND | ND | ND | + | ND | ND | [20] | |
c.2244C > G | p.Pro141Ala | Hetero | 1 | 4 | IDC | ND | Caucasian | ND | ND | ND | ND | ND | ND | ND | + | ND | ND | [20] | |
c.75G > A | p.Trp25Ter | Homo | 1 | 5 | LGMD-2G | ND | Moldavian | F | 15 y | + calves | ND | ND | ND | ND | ND | + the lower extremities | + anterior compartment of legs | mild weakness in shoulder girdle muscles | [21] |
c.157C > T | p.Gln53Ter | Homo | 2 | 6 | LGMD-2G | ND | Brazilian | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | [22] |
c.637–640delGG/c.157C > T | -/p.Gln53Ter | Com Hetero | 1 | 7 | LGMD-2G | ND | Brazilian | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | [22] |
c.172C > T | p.Gln58X | Homo | 1 | 8 | telethonin deficiency | No | French | M | 9 m | ND | ND | + | + the Achilles’ tendons | ND | ND | + | ND | delayed motor milestones, waddling gait, mild hyperlordosis, mild upper limb distal joint hyperlaxity, Gower’s maneuver | [23] |
c.37–39delGAG | p.Glu13del | Homo | 1 | 9 | HCM | No | Caucasian | M | 47 y | ND | ND | ND | ND | ND | ND | ND | ND | Dyspnea, (pre)syncope | [6] |
c.37–39delGAG | p.Glu13del | Homo | 1 | 10 | HCM | No | Caucasian | M | 37 y | ND | ND | ND | ND | ND | + | ND | ND | Angina, dyspnea, sudden cardiac death | [6] |
c.208C > T | p.R70W | Homo | 1 | 11 | HCM | No | Caucasian | F | 44 y | ND | ND | ND | ND | ND | + | ND | ND | Asymptomatic, Dyspnea, Atrial fibrillation | [6] |
c.269C > T | p.P90L | Homo | 1 | 12 | HCM | No | Caucasian | F | 26 y | ND | ND | ND | ND | ND | + | ND | ND | Angina, dyspnea, presyncope, Atrial fibrillation | [6] |
c. 226C > T | p.Arg76Cys | Hetero | 1 | 13 | Intestinal pseudo-obstruction | ND | Italian | M | 42 y | ND | ND | ND | ND | ND | ND | ND | intestinal pseudo-obstruction, delayed small bowel and colon transit | [24] | |
c.244C > T | p.Gln82X | Homo | 1 | 14 | LGMD-2G | No | Indian | M | 8 y | ND | + Thigh, calf muscles, gluteal | + | + asymmetric Achilles tendon, bilateral elbow flexion, hip and ankle joints | + | + Especially lower | + | toe-walking, frequent fall, a wide-based gait with lumbar hyperlordosis, wheelchair bound, distal phalanx flexion weakness, a few episodes of chocking | [25] | |
c.255C > A | p.Tyr85* | Homo | 1 | 15 | LGMD-2G | Yes | Spanish | 2 y | ND | + Thighs, the tibialis anterior muscles | + | + symmetric Achilles tendon, patellar | ND | + | + | toe walking, frequent fall, asymmetric calves, Gowers’ maneuver | [26] | ||
c.316C > T | p.Arg106Cys | Hetero | 2 | 16 | HCM | No | Danish | ND | 30–32 y | ND | ND | ND | ND | ND | + | ND | ND | apical hypertrophy | [17] |
c.* + 76G > T | Homo | 1 | 17 | HCM | No | Danish | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | [17] | ||
c.388C > T | p.R130C | Homo | 1 | 18 | DCM | ND | British | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | [27] | |
c.472C > A | p.R158S | Homo | 1 | 19 | DCM | ND | British | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | [27] | |
c.493C > G | p.Q165E | Homo | 1 | 20 | DCM | ND | British | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | [27] | |
c.410C > T | p.Thr137Ile | Hetero | 1 | 21 | HCM | No | Japanese | F | 29 y | ND | ND | ND | ND | ND | + | ND | ND | [10] | |
c.458G > A | p.R153H | Homo | 1 | 22 | HCM | No | Japanese | M | 48 y | ND | ND | ND | ND | ND | + | ND | ND | [10] | |
c.395A > C | p.E132Q | Hetero | 1 | 23 | DCM | No | Korean | M | 34 y | ND | ND | ND | ND | ND | + | ND | ND | heart failure | [10] |
c.472C > A | p.Arg158Ser | Homo | 1 | 24 | DCM | No | Finnish | ND | ND | ND | ND | ND | ND | ND | + | ND | ND | LV systolic dysfunction, hypertensive heart disease, primary valve disease, coronary artery disease | [28] |
c.472C > T | p.R158C | Homo | 1 | 25 | DCM | ND | Canadian | ND | ND | ND | ND | ND | ND | ND | + | ND | ND | Hypertension, diabetes, thyroid conditions | [29] |
c.90_91del | p.Ser31HisfsX11 | Homo | 1 | 26 | LGMD-2G | Yes | Turkish | F | 2 y | ND | + the dorsal thighs and calves | ND | + Achilles tendon | ND | ND | + Especially leg | + Especially legs | tiptoe-walking, myalgia, hyperlordosis, | [30] |
c.26_33dupAGGTGTCG | p.Arg12fsTer31 | Homo | 2 | 27 | LGMD-2G | Yes | Chinese–Cambodian | M | late teenage years | + Mild calf | ND | + | + Achilles tendon | ND | ND | ND | ND | progressive muscle weakness, mild weakness of eye closure, mild weakness of most other muscle groups | [31] |
c.45_46delTG | p.Cys15Ter | Het | 1 | 28 | LGMD-2G | No | Chinese | ND | late childhood | + calf | ND | + | ND | ND | ND | + | + | wasted sternal head of pectoralis major, finger drop, foot drop | [32] |
c.100delC/c.166insG | p.Glu35Argfs*33/p.Gln56Argfs*52 | Com hetero | 1 | 29 | LGMD-2G | ND | Chinese | ND | ND | ND | ND | ND | ND | ND | + | ND | ND | Vacuolar myopathy | [33] |
c.37_39delGAG/c.496_499delAGAG | p.Glu13del /p.Arg166AlafsTer21 | Comp hetero | 1 | 30 | CMD | ND | Korean | M | 2 y | ND | + | ND | ND | ND | ND | ND | ND | muscle fiber necrosis, increased central nuclei and interstitial fibrosis and/or fatty infiltration | [34] |
c.171C > G | p.C57W | Hetero | 2 | 31 | HCM | No | Portuguese | F/M | 45 y | ND | ND | ND | ND | ND | + | ND | ND | paroxysmal atrial fibrillation (AF), a systolic murmur at the left sternal border and aortic area that increased during orthostatism | [35] |
c.109_110delGG/c.157C > T | p.Gly37Leufs/p.Gln53X | Comp Hetero | 6 | 32 | LGMD-2G | ND | Brazilian | ND | 9–15 Y | ND | ND | ND | ND | ND | ND | + Upper | ND | ND | [22] |
c.165–166insG | ND | 1 | 33 | LGMG-2 | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | *(ClinVar) | |
c.110 + 5G > A | ND | 1 | 34 | LGMG-2 | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | *(ClinVar) | |
c.25–31dup | p.Ser11Ter | Homo | 1 | 35 | LGMD-2G | ND | ND | ND | 26 y | ND | ND | ND | ND | ND | + | ND | ND | muscular dystrophy, myopathy, muscle weakness | *(ClinVar) |
c.66G > A | p.Trp22Ter | Homo | 1 | 36 | HCM | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | *(ClinVar) |
c.34dup | p.Glu12fs | Homo | 1 | 37 | LGMG-2G | ND | Iranian | M | 39–40 y | ND | ND | ND | ND | ND | ND | ND | ND | Myopathy | *(ClinVar) |
c.43–49dup | p.Arg17delinsLeuTer | Hetero | 1 | 38 | HCM | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | *(ClinVar) |
c.103G > T | p.Glu35Ter | Homo | 1 | 39 | HCM | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | *(ClinVar) |
c.110_110 + 1del | ND | 1 | 40 | LGMG | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | *(ClinVar) | |
c.136_137del | p.Gln46fs | ND | 1 | 41 | HCM | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | *(ClinVar) |
c.166C > T | p.Gln56Ter | ND | 1 | 42 | HCM | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | *(ClinVar) |
c.110 + 1G > A | Homo | 1 | 43 | LGMG-2G | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | Lower limb muscle weakness, Difficulty climbing stairs | *(ClinVar) | |
c.14–15del | p.Glu5fs | ND | 1 | 44 | Abnormality of the musculature | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | ND | *(ClinVar) |