Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations.
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.
Carboni
Nicola
N
Neuromuscular Unit, Department of Cardiovascular Science and Neurology, University of Cagliari, Sardinia, Italy. nikola.carboni@tiscali.it
Mura
Marco
M
Marrosu
Giovanni
G
Cocco
Eleonora
E
Marini
Stefano
S
Solla
Elisabetta
E
Mateddu
Anna
A
Maioli
Maria Antonietta
MA
Piras
Rachele
R
Mallarini
Giorgio
G
Mercuro
Giuseppe
G
Porcu
Maurizio
M
Marrosu
Maria Giovanna
MG
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
C494847:LMNA protein, human; D034904:Lamin Type A