title: Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations.
abstract: Laminopathies are a heterogeneous group of LMNA-gene-mutation-related clinical disorders associated with alterations of cardiac and skeletal muscle and peripheral nerves, metabolic defects, and premature aging. Leg muscle imaging investigations were performed in a cohort of patients with LMNA gene alterations who were suffering from Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy type 1B, isolated cardiac disorders or a phenotype of cardiac disorders, and lipodystrophy, including one individual with peripheral neuropathy. Leg muscle imaging revealed varying degrees of alteration in the soleus and medial head of gastrocnemius in each subject. This study demonstrates that LMNA-gene-mutated patients devoid of any clinically detectable skeletal muscle involvement have the same pattern of leg muscle involvement as patients with overt skeletal muscle compromise. This finding suggests the presence of a continuum of skeletal muscle involvement among phenotypes of LMNA-gene-mutation-related skeletalmyopathy and cardiomyopathy.
authors.affiliation: Neuromuscular Unit, Department of Cardiovascular Science and Neurology, University of Cagliari, Sardinia, Italy. nikola.carboni@tiscali.it
authors.forename: Nicola
authors.initials: N
authors.lastname: Carboni
authors.forename: Marco
authors.initials: M
authors.lastname: Mura
authors.forename: Giovanni
authors.initials: G
authors.lastname: Marrosu
authors.forename: Eleonora
authors.initials: E
authors.lastname: Cocco
authors.forename: Stefano
authors.initials: S
authors.lastname: Marini
authors.forename: Elisabetta
authors.initials: E
authors.lastname: Solla
authors.forename: Anna
authors.initials: A
authors.lastname: Mateddu
authors.forename: Maria Antonietta
authors.initials: MA
authors.lastname: Maioli
authors.forename: Rachele
authors.initials: R
authors.lastname: Piras
authors.forename: Giorgio
authors.initials: G
authors.lastname: Mallarini
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Mercuro
authors.forename: Maurizio
authors.initials: M
authors.lastname: Porcu
authors.forename: Maria Giovanna
authors.initials: MG
authors.lastname: Marrosu
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D015331:Cohort Studies; D005260:Female; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008060:Lipodystrophy / Q000175:diagnosis / Q000235:genetics*; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000473:pathology*; D049288:Muscular Dystrophies, Limb-Girdle / Q000175:diagnosis / Q000235:genetics; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000175:diagnosis / Q000235:genetics; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D055815:Young Adult
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A