This website provides information on patients with mutations in the LAMA5 gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the LAMA5 gene is a multisystem disorder characterized by skin anomalies, delayed wound healing with impaired scarring, mild alopecia, dental crowding, night blindness and vitreous anomalies, muscle weakness, presynaptic myasthenic syndrome, serum negative osteoarthritis, joint and internal organs ligamentous laxity, malabsorption syndrome and hypothyroidism. Inter-individual variability in severity and distribution of clinical phenotype is typical in the affected individuals in relation with mode of inheritance, gender and age.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the LAMA5 gene.

Simone Sampaolo, MD, PhD, Associated Professor of Neurology, Department of Medical and Surgical Advanced Sciences; Reference Center for Neurological and Neuromuscular Rare Diseases, and Interuniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", via Pansini 5, 80131 Naples, Italy, simone.sampaolo@unicampania.it

Chiara Terracciano, MD, PhD, Neurologist, Research Assistant, Department of Medical and Surgical Advanced Sciences, University of Campania "Luigi Vanvitelli", via Pansini 5, 80131 Naples, Italy, chiara.terracciano@uniroma2.it; chiaraterracciano@gmail.com

Teresa Esposito, PhD, Molecular Geneticist, Institute of Genetics and Biophysics, "Adriano Buzzati Traverso", Italian National Research Council (CNR), via Pietro Castellino, 111, 80131 Naples, Italy, and IRCCS, INM Neuromed, teresa.esposito@igb.cnr.it

Filomena Napolitano, PhD, Molecular Geneticist, Department of Medical and Surgical Advanced Sciences, University of Campania "Luigi Vanvitelli", via Pansini 5, 80131 Naples, Italy | Institute of Genetics and Biophysics, "Adriano Buzzati Traverso", Italian National Research Council (CNR) City, country: via Pietro Castellino, 111, 80131 Naples, Italy, filomena.napolitano@unicampania.it; filomena.napolitano@igb.cnr.it

Mariarosa Anna Beatrice, named Marina, Melone, MD, PhD, Associated Professore in Neurology, Department of Medical and Surgical Advanced Sciences and Reference Center for Neurological and Neuromuscular Rare Diseases, University of Campania and Interuniversity Center for Research in Neuroscineces, University of Campania "Luigi Vanvitelli", via Pansini 5, 80131 Naples, Italy, marina.melone@unicampania.it

Giovanni Iolascon, MD, Full Professor in Physical Medicine and Rehabilitation, Department of Medical and Surgical Specialties and Dentistry, University of Campania "Luigi Vanvitelli", via Luigi De Crecchio, 6 80138 Naples, Italy, giovanni.iolascon@unicampania.it