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Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations
Author(s) -
Carboni Nicola,
Mura Marco,
Marrosu Giovanni,
Cocco Eleonora,
Marini Stefano,
Solla Elisabetta,
Mateddu Anna,
Maioli Maria Antonietta,
Piras Rachele,
Mallarini Giorgio,
Mercuro Giuseppe,
Porcu Maurizio,
Marrosu Maria Giovanna
Publication year - 2010
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21514
Subject(s) - lmna , skeletal muscle , muscular dystrophy , medicine , lipodystrophy , cardiomyopathy , limb girdle muscular dystrophy , pathology , phenotype , endocrinology , anatomy , biology , genetics , heart failure , gene , immunology , human immunodeficiency virus (hiv) , antiretroviral therapy , viral load
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. Muscle Nerve, 2010