Table 2

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

Bibliographic referencePatient 1Patient 2Patient 3Amish4Dutch9Hispanic New Yorkers10Palestinians2Ashkenazi 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.