title: Muscle imaging in muscle dystrophies produced by mutations in the EMD and LMNA genes.
abstract: Identifying the mutated gene that produces a particular muscle dystrophy is difficult because different genotypes may share a phenotype and vice versa. Muscle MRI is a useful tool to recognize patterns of muscle involvement in patients with muscle dystrophies and to guide the diagnosis process. The radiologic pattern of muscle involvement in patients with mutations in the EMD and LMNA genes has not been completely established. Our objective is to describe the pattern of muscle fatty infiltration in patients with mutations in the EMD and in the LMNA genes and to search for differences between the two genotypes that could be helpful to guide the genetic tests. We conducted a national multicenter study in 42 patients, 10 with mutations in the EMD gene and 32 with mutations in the LMNA gene. MRI or CT was used to study the muscles from trunk to legs. Patients had a similar pattern of fatty infiltration regardless of whether they had the mutation in the EMD or LMNA gene. The main muscles involved were the paravertebral, glutei, quadriceps, biceps, semitendinosus, semimembranosus, adductor major, soleus, and gastrocnemius. Involvement of peroneus muscle, which was more frequently affected in patients with mutations in the EMD gene, was useful to differentiate between the two genotypes. Muscle MRI/CT identifies a similar pattern of muscle fatty infiltration in patients with mutations in the EMD or the LMNA genes. The involvement of peroneus muscles could be useful to conduct genetic analysis in patients with an EDMD phenotype.
authors.affiliation: Neuromuscular Disorders Unit, Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain. Electronic address: jdiazm@santpau.cat.
authors.forename: Jordi
authors.initials: J
authors.lastname: Díaz-Manera
authors.affiliation: Neuromuscular Disorders Unit, Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain.
authors.forename: Aida
authors.initials: A
authors.lastname: Alejaldre
authors.affiliation: Institute of Neuropathology, Department of Pathology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Department of Neurology, Hospital de Viladecans, Barcelona, Spain.
authors.forename: Laura
authors.initials: L
authors.lastname: González
authors.affiliation: Institute of Neuropathology, Department of Pathology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Neuromuscular Unit, Department of Neurology, IDIBELL-Hospital de Bellvitge, Hospitalet de Llobregat, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Spain.
authors.forename: Montse
authors.initials: M
authors.lastname: Olivé
authors.affiliation: Pediatric Department, Hospital Universitario Infanta Sofía, TRADESMA IdiPaz-UAM, Madrid, Spain.
authors.forename: David
authors.initials: D
authors.lastname: Gómez-Andrés
authors.affiliation: Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain.
authors.forename: Nuria
authors.initials: N
authors.lastname: Muelas
authors.affiliation: Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain; Department of Neurology, Hospital Universitari I Politècnic La Fe, Valencia, Spain.
authors.forename: Juan José
authors.initials: JJ
authors.lastname: Vílchez
authors.affiliation: Radiology Department, Universitat Autònoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: Jaume
authors.initials: J
authors.lastname: Llauger
authors.affiliation: Neuromuscular Disorders Unit, Department of Neurology and Neurophysiology, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: Pilar
authors.initials: P
authors.lastname: Carbonell
authors.affiliation: Neuromuscular Disorders Unit, Department of Neurology and Neurophysiology, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: Celedonio
authors.initials: C
authors.lastname: Márquez-Infante
authors.affiliation: Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Spain; Department of Neurology, Hospital Universitario Donostia, Donostia-San Sebastián, Spain; Neurosciences Area, Biodonostia Institute, Donostia-San Sebastián, Spain.
authors.forename: Roberto
authors.initials: R
authors.lastname: Fernández-Torrón
authors.affiliation: Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Spain; Neuromuscular Disorders Unit, Department of Neurology and Neurophysiology, Hospital Universitario Virgen del Rocío, Sevilla, Spain.
authors.forename: Juan José
authors.initials: JJ
authors.lastname: Poza
authors.affiliation: Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Spain; Department of Neurology, Hospital Universitario Donostia, Donostia-San Sebastián, Spain; Neurosciences Area, Biodonostia Institute, Donostia-San Sebastián, Spain.
authors.forename: Adolfo
authors.initials: A
authors.lastname: López de Munáin
authors.affiliation: Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain; Department of Neurology, Hospital Universitario Donostia, Donostia-San Sebastián, Spain; Neurosciences Area, Biodonostia Institute, Donostia-San Sebastián, Spain.
authors.forename: Lidia
authors.initials: L
authors.lastname: González-Quereda
authors.affiliation: Cardiology Department, Universitat Autònoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: Sonia
authors.initials: S
authors.lastname: Mirabet
authors.affiliation: Neuromuscular Disorders Unit, Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBERNED), Spain.
authors.forename: Jordi
authors.initials: J
authors.lastname: Clarimon
authors.affiliation: Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain; Genetic Department, Universitat Autònoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.
authors.forename: Pía
authors.initials: P
authors.lastname: Gallano
authors.affiliation: Neuromuscular Disorders Unit, Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain.
authors.forename: Ricard
authors.initials: R
authors.lastname: Rojas-García
authors.affiliation: Neuromuscular Disorders Unit, Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain.
authors.forename: Eduard
authors.initials: E
authors.lastname: Gallardo
authors.affiliation: Neuromuscular Disorders Unit, Neurology Department, Universitat Autónoma de Barcelona, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain; Centro de Investigación Biomédica en Red en Enfermedades Raras (CIBERER), Spain.
authors.forename: Isabel
authors.initials: I
authors.lastname: Illa
mesh_terms: D000328:Adult; D000368:Aged; D009202:Cardiomyopathies / Q000235:genetics / Q000473:pathology; D005260:Female; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000000981:diagnostic imaging / Q000473:pathology*; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics* / Q000473:pathology*; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics* / Q000473:pathology*; D009154:Mutation / Q000235:genetics*; D011859:Radiography; D015898:Tomography Scanners, X-Ray Computed; D055815:Young Adult
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A
keywords: EMD; Emery–Dreifuss; LMNA; Muscle CT; Muscle MRI; Muscle dystrophy