203-1 |
c.103T>C c.(?_-77)_(∗602_?)del |
p.Cys35Arg Heterozygous p.0? Heterozygous |
Intermediate |
F |
Vietnamese |
Normal |
16 yrs, uses wheelchair (ambulant 24–36 mo) |
Ventilated 24 hr from 5 yrs. High-arched palate, dysarthria Scoliosis |
832-1 |
c.459delinsACTC |
p.Ser153_Ala154insLeu Homozygous |
Other forms (grade of severity: mild) |
M |
Russian |
No data |
12 yrs, ambulant |
Distal weakness > proximal distal contractures |
D10-236 |
c.581_583delAAG |
p.Glu194del Heterozygous |
Typical form |
M |
Chinese |
Normal - h 40 |
5 yrs, ambulant |
VSD, finger contractures, focal renal echogenicity |
c.1238C>T |
p.Ser413Leu Heterozygous |
D12-203 |
c.1748_1755del AAGGAAAT, |
p.Lys583Thrfs∗7 Homozygous |
Fetal akinesia sequence |
M |
Persian |
Polyhydramnios, breech presentation, emergency Cesarean section - h 31+2 |
Died at 3 mo (active support discontinued) |
Arthrogryposis, macrocephaly, hypospadias No antigravity movements at birth |
12DG1177 |
c.641delA |
p.Asn214Thrfs∗14 Homozygous |
Severe form Fetal akinesia sequence |
M |
Saudi Arabian |
Fetal movements weak, breech presentation |
Died during 1st day of life |
Dislocation of hips and knees, cleft palate, micrognathia, narrow chest |