Muscle imaging analogies in a cohort of patients with different clinical phenoty

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Muscle/Nerve Oct. 30, 2009

Muscle imaging analogies in a cohort of patients with different clinical

phenotypes caused by LMNA gene mutations.

Carboni N, Mura M, Marrosu G, Cocco E, Marini S, Solla E, Mateddu A, Maioli MA,

Piras R, Mallarini G, Mercuro G, Porcu M, Marrosu MG.

Neuromuscular Unit, Department of Cardiovascular Science and Neurology,

University of Cagliari, Sardinia, Italy.

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.