Researchers from the Neuromuscular and Mitochondrial Pathology group at Vall d’Hebron Institute of Research (VHIR), have discovered the gene which causes limb-girdle muscular dystrophy 1F (LGMD1F), a rare disease described more than 10 years ago in more than 6 generations of the same family, which affects nearly 50 people in Spain. It is the TNPO3 gene, which is encoded by the protein transportin 3. To realize this study, published at "http://brain.oxfordjournals.org/content/early/2013/03/29/brain.awt074.abstract?sid=152db724-b9bb-4808-bdf1-9c761194216c" Brain, scientists followed a whole genome sequencing strategy and analyzed the changes in the chromosomal 7 region, linked with the inheritance of the disorder. The analysis demonstrated that a microdeletion in the termination codon of transportin 3 gene generated a 15-amino acid extension of the transportin 3 protein that explains the dominant form of this disease. Transportin 3 is a nuclear membrane protein which had been identified in previous studies as a key factor in the importation process of Human Immunodeficiency Virus (HIV) to the nucleus. Nonetheless, Dr. Martí assures that this function has no relation with its current implication as a cause of LGMD1F. Thanks to the research of VHIR’s group, which is associated to the Rare Diseases CIBER (CIBERER), and thanks to the collaboration of Josep Gámez from VHIR, Dr. Juan Víchez from Hospital de la Fe in Valencia, Dr. Carmen Navarro from Hospital Universitario de Vigo, and Dr. Michio Hirano from Columbia University in New York, scientists have expanded their knowledge of the molecular basis of muscular dystrophies and bolstered the importance of defects of nuclear envelope proteins as causes of inherited myopathies. Limb-girdle muscular dystrophy 1F produces weakness in the muscles of pelvic and scapular zones. Although its severity is different in every case but in must of the patients the prognosis is mild or moderate, there are some cases which can finish with the patient using a wheelchair. It is a rare disease without any treatment and the family studied in this work is the only one observed with this type of muscular dystrophy.