Marco Savarese and Bjarne Udd contributed equally to this work.

Folkhälsan Research Center, Helsinki, Finland

Ali Oghabian, Per Harald Jonson, Swethaa Natraj Gayathri, Mridul Johari, Ella Nippala, Peter Hackman, Marco Savarese & Bjarne Udd

Research Program for Clinical and Molecular Metabolism, Faculty of Medicine, University of Helsinki, 00014, Helsinki, Finland

Ali Oghabian

Department of Medical Genetics, University of Helsinki, Helsinki, Finland

Per Harald Jonson, Swethaa Natraj Gayathri, Peter Hackman, Marco Savarese & Bjarne Udd

Harry Perkins Institute of Medical Research, Centre for Medical Research, University of Western Australia, Nedlands, WA, Australia

Mridul Johari

Pediatric Neuromuscular Unit. Child Neurology Department, Hospital Universitari Vall d’Hebronvall d’Hebron Research Institute (VHIR) ES, Barcelona, Spain

David Gomez Andres, Francina Munell & Bjarne Udd

Histology Department, Vall d’Hebron University Hospital ES, Barcelona, Spain

Jessica Camacho Soriano

Prenatal Diagnosis Department, Vall d’hebron University Hospital ES, Barcelona, Spain

Maria Angeles Sanchez Duran

Department of Obstetrics, Maternal Fetal Medicine Unit, Universitat Autònoma de Barcelona, Hospital Vall D’hebron, Barcelona, Spain

Juha Sinisalo

Helsinki University Central Hospital, Helsinki, Finland

Heli Tolppanen

Department of Pathology, Transplantation Laboratory, University of Helsinki, Helsinki, Finland

Johanna Tolva

Department of Neurology, Neuromuscular Research Center, Tampere, University and University Hospital, Tampere, Finland

Bjarne Udd