Patient | Sex | Mutation1 | AA change | Origin | Age of onset | Age2 | Central nuclei | Pregnancy | Ventilation | Muscle weakness | Facial weakness | Ptosis | Ophtalmoplegia/ paresis | Other phenotypes | Cognitive development | Cardiac function | Reference | |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Family 1 | AAT68 | male | c.105G > T | p.LysK35Asn | India | birth | 12 | ++ | reduced fetal movements, oligohydramnios, IUGR3 | normal | proximal, slowly progressive | no | yes | yes | contractures at birth | normal | normal | [12] |
ACC82 | female | c.105G > T | p.LysK35Asn | India | birth | died at 1year | + | reduced fetal movements, oligohydramnios, IUGR | normal | proximal | no | no | no | contractures at birth | hypodevelopment of frontal lobes | died from myocarditis | [12] | |
ADS5 | female | no DNA available | n.d. | India | birth | died at 18 hrs | n.d. | reduced fetal movements, oligohydramnios, IUGR, premature birth | lung hypoplasia, ventilated from birth, died from respiratory failure | no spontaneous movements | n.d. | n.d. | n.d. | severe joint contractures at birth | n.d. | prenatal heart enlarged, postnatal ECG normal | [12] | |
Family 2 | ADR71 | male | c.451G > A | p.Asp151Asn | Iraq | 8 | 35 | ++ | normal | n.d. | proximal | n.d | no | no | no | normal | normal | [12] |
Single case | AEY47 | male | c.461G > A | pArg154Gln | Morocco | 11 | 21 | ++ | normal | respiratory insufficiency | diffuse atrophy, slowly progressive | yes | yes | yes | Scapular winging, hyperlordosis, left-sided kyphoscoliosis | IQ 70 | normal | [15] |
This family | AFG89 (patient 1) | female | c.1717C > T | p.Gln573stop | Turkey | birth | 13 | ++ | normal | normal | proximal | yes | yes | yes | no | IQ 60 | normal | this study |
AFG92 (patient 2) | male | c.1717C > T | p.Gln573stop | Turkey | birth | 14 | ++ | normal | respiratory insufficiency | proximal | yes | yes | yes | no | IQ 60 | cardiac arrhythmia | this study | |
Family 3 | LF41 | male | c.1723A > T | p.Lys575stop | Iraq | birth | 14 | ++ | normal | respiratory insufficiency | proximal, slowly progressive | yes | yes | yes | scoliosis | normal | normal |