Bibliographic reference | Patient 1 | Patient 2 | Patient 3 | Amish4 | Dutch9 | Hispanic New Yorkers10 | Palestinians2 | Ashkenazi Jews, US residents11 |
Number of cases | 1 | 1 | 1 | 6/71* | 3 | 1 | 9 | 1/10† |
Foetal hypomobility | – | – | – | – | – | – | + | – |
Ogival palate | + | – | – | – | – | – | – | + |
Global hypotony | + | + | + | + | + | + | + | – |
Facial hypomimia | + | + | UNK | UNK | UNK | UNK | UNK | + |
Altered global mobility | + | + | + | + | + | + | + | – |
Altered fine motor skills | – | – | – | – | – | – | – | – |
Tremor in the first few months of life | + | – | – | + | – | + | + | – |
Normal cognition | + | + | + | + | + | + | + | + |
Dysarthria, expressive language delay | + | – | – | – | – | + | – | – |
Failure to thrive | + | + | – | + | + | + | + | UNK |
Peripheral articular retraction | + | + | – | + | + | + | + | – |
Rigid spine | + | + | – | + | – | – | + | UNK |
Diaphragm atrophy, diaphragmatic hernia | – | – | + | – | + | – | – | UNK |
Thoracic dystrophy | + | + | – | + | + | + | + | + |
Kyphoscoliosis | + | + | – | – | + | + | + | + |
Respiratory failure | + | + | + | + | + | + | + | – |
Ventilatory support | NIV | – | NIV | NIV | Tracheotomy | NIV | NIV/tracheotomy | – |
Gastrostomy | + | – | + | – | + | – | + | – |
Death | 29 months | 16 months | 6 months | Before 2 years old | UNK | UNK | Between 2.4 and 11 years old | UNK |
TNNT1 genetic change | Homozygous deletion of exons 8–9 | c.334G>T p.(Glu112*) Heterozygous, and c.7467C>A leading to out of frame partial intronic retention heterozygous | Homozygous mutation: p.(Glu6*) | p.(Glu180*) | c.309+1G>A (exon 8 skipping) Heterozygous - Deletion of exon 14 heterozygous | p.(Ser108*) | p.(Leu203*) | c.311A>T (p.(Glu104Val)) |
Transmission | Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal recessive | Autosomal dominant |
*6 cases genotyped out of 71 patients with the Amish nemaline myopathy clinical phenotype.
†1 case genotyped out of 10 cases described.
NIV, non-invasive ventilation; TNNT1, troponin T type 1; UNK, unknown.