Table 2

Clinical and genotypic data of patients with TNNT1 pathogenic variants in our series and from previous publications

Bibliographic referencePatient 1Patient 2Patient 3Amish4 Dutch9 Hispanic New Yorkers10 Palestinians2 Ashkenazi Jews, US residents11
Number of cases1116/71*3191/10†
Foetal hypomobility+
Ogival palate++
Global hypotony+++++++
Facial hypomimia++UNKUNKUNKUNKUNK+
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 supportNIVNIVNIVTracheotomyNIVNIV/tracheotomy
Gastrostomy++++
Death29 months16 months6 monthsBefore 2 years oldUNKUNKBetween 2.4 and 11 years oldUNK
TNNT1 genetic changeHomozygous deletion of exons 8–9c.334G>T p.(Glu112*) Heterozygous, and c.7467C>A leading to out of frame partial intronic retention heterozygousHomozygous 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))
TransmissionAutosomal recessiveAutosomal recessiveAutosomal recessiveAutosomal recessiveAutosomal recessiveAutosomal recessiveAutosomal recessiveAutosomal 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.