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Primary muscle involvement in a 15‐year‐old girl with the recurrent homozygous c.362dupC variant in FKBP14
Authors:Marco Castori  Chiara Fiorillo  Emanuele Agolini  Michele Sacco  Carlo Minetti  Antonio Novelli  Giuseppe Guglielmi  Enrico Bertini
Affiliation:1.

https://orcid.org/0000-0002-6069-0993;2. Division of Medical Genetics, IRCCS‐Casa Sollievo della Sofferenza, Foggia, Italy;3. Marco Castori, Division of Medical Genetics, IRCCS‐Casa Sollievo della Sofferenza, Poliambulatorio “Papa Giovanni Paolo II,” 2nd Floor, Viale Padre Pio 7, 71013 San Giovanni Rotondo, Foggia, Italy.;4. Paediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa, G. Gaslini' Institute, Genoa, Italy;5. Laboratory of Medical Genetics, IRCCS‐Bambino Gesù Children's Hospital, Rome, Italy;6. Division of Pediatrics, IRCCS‐Casa Sollievo della Sofferenza, Foggia, Italy;7. Department of Radiology, IRCCS‐Casa Sollievo della Sofferenza, Foggia, Italy;8. Department of Clinical and Experimental Medicine, Foggia University School of Medicine, Foggia, Italy;9. Division of Neuromuscular and Neurodegenerative Disorders, IRCCS‐Bambino Gesù Children's Hospital, Rome, Italy

Abstract:
Keywords:Ehlers‐Danlos syndrome     FKBP14  kyphoscoliotic  muscle dystrophy  musculocontractural
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