Article
A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report.
Journal of neuromuscular diseases - 1 Jan 2022
Montano Vincenzo, Mancuso Michelangelo, Simoncini Costanza, Torri Francesca, Chico Lucia, Ali Greta, Rocchi Anna, Baldinotti Fulvia, Caligo Maria Adelaide, Lattanzi Giovanna, Mattioli Elisabetta, Cenacchi Giovanna, Barison Andrea, Siciliano Gabriele, Ricci Giulia
Abstract excerpt
BACKGROUND: Proximal muscle weakness may be the presenting clinical feature of different types of myopathies, including limb girdle muscular dystrophy and primary mitochondrial myopathy. LGMD1B is caused by LMNA mutation. It is characterized by progressive weakness and wasting leading to proximal weakness, cardiomyopathy, and hearth conduction block. OBJECTIVE: In this article, we describe the case of a patient...
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