NM_005592.4(MUSK):c.79+2T>GPathogenic
Congenital myasthenic syndrome 4C|Fetal akinesia deformation sequence 1;Congenital myasthenic syndrome 9|not provided|Congenital myasthenic syndrome 9
β
β
ββ2026
NM_005592.4(MUSK):c.1091_1092del (p.Pro364fs)Pathogenic
Congenital myasthenic syndrome 9;Fetal akinesia deformation sequence 1
β
β
ββ2025β Residue 364
NM_005592.4(MUSK):c.1586+1G>ALikely pathogenic
Congenital myasthenic syndrome 9;Fetal akinesia deformation sequence 1
β
β
ββ2025
NM_005592.4(MUSK):c.114T>A (p.Asp38Glu)Likely pathogenic
Congenital myasthenic syndrome 9;Fetal akinesia deformation sequence 1|MUSK-related disorder
β
β
ββ2025β Residue 38
NM_005592.4(MUSK):c.2446C>T (p.Arg816Ter)Pathogenic
not provided|Fetal akinesia deformation sequence 1;Congenital myasthenic syndrome 9
β
β
ββ2025β Residue 816
NM_005592.4(MUSK):c.1724T>C (p.Ile575Thr)Pathogenic
Fetal akinesia deformation sequence 1|Bilateral ptosis;Respiratory insufficiency;Stridor;Delayed gross motor development|not provided|Congenital myasthenic syndrome 9;Fetal akinesia deformation sequence 1
β
β
ββ2025β Residue 575
NM_005592.4(MUSK):c.2T>C (p.Met1Thr)Pathogenic
Congenital myasthenic syndrome 9;Fetal akinesia deformation sequence 1|not provided
β
β
ββ2024β Residue 1
NM_005592.4(MUSK):c.909dup (p.Ala304fs)Likely pathogenic
not provided|Fetal akinesia deformation sequence 1
β
β
ββ2023β Residue 304
NM_005592.4(MUSK):c.2357G>A (p.Trp786Ter)Likely pathogenic
Fetal akinesia deformation sequence 1|not provided
β
β
ββ2019β Residue 786
NM_005592.4(MUSK):c.2193C>A (p.Cys731Ter)Likely pathogenic
Autosomal recessive MUSK-related disorders
β
βββ2025β Residue 731
NM_005592.4(MUSK):c.790C>T (p.Arg264Ter)Pathogenic
Congenital myasthenic syndrome 9;Fetal akinesia deformation sequence 1
β
βββ2025β Residue 264
NM_005592.4(MUSK):c.1634T>C (p.Leu545Pro)Likely pathogenic
Congenital myasthenic syndrome 9
β
βββ2025β Residue 545
NM_005592.4(MUSK):c.496C>T (p.Arg166Ter)Pathogenic
Congenital myasthenic syndrome 9;Fetal akinesia deformation sequence 1
β
βββ2025β Residue 166
NM_005592.4(MUSK):c.1555C>T (p.Arg519Ter)Pathogenic
Fetal akinesia deformation sequence 1;Congenital myasthenic syndrome 9
β
βββ2025β Residue 519
NM_005592.4(MUSK):c.2358G>A (p.Trp786Ter)Pathogenic
Congenital myasthenic syndrome 9;Fetal akinesia deformation sequence 1
β
βββ2025β Residue 786
NM_005592.4(MUSK):c.1031C>G (p.Pro344Arg)Likely pathogenic
Congenital myasthenic syndrome 9|not provided
β
βββ2025β Residue 344
NM_005592.4(MUSK):c.2268C>G (p.Tyr756Ter)Pathogenic
Congenital myasthenic syndrome 9;Fetal akinesia deformation sequence 1
β
βββ2025β Residue 756
NM_005592.4(MUSK):c.545dup (p.Glu183fs)Pathogenic
Congenital myasthenic syndrome 9;Fetal akinesia deformation sequence 1
β
βββ2025β Residue 183
NM_005592.4(MUSK):c.1735A>T (p.Arg579Ter)Pathogenic
Fetal akinesia deformation sequence 1;Congenital myasthenic syndrome 9
β
βββ2025β Residue 579
NM_005592.4(MUSK):c.1185-1G>ALikely pathogenic
Congenital myasthenic syndrome 9;Fetal akinesia deformation sequence 1
β
βββ2025