Journal of neuromuscular diseases · 2022
A Single mtDNA Deletion in Association with a LMNA Gene New Frameshift Variant: A Case Report.
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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
Аннотация
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 who presented with limb-girdle weakness and a double trouble scenario -mitochondrial DNA single deletion and a new LMNA mutation.
METHODS: Pathophysiological aspects were investigated with muscle biopsy, Western Blot analysis, NGS nuclear and mtDNA analysis and neuromuscular imaging (muscle and cardiac MRI).
RESULTS: Although secondary mitochondrial involvement is possible, a "double trouble" syndrome can not be excluded.
CONCLUSION: Implication deriving from hypothetical coexistence of two different pathological conditions or the possible secondary mitochondrial involvement are discussed.
OBJECTIVE: In this article, we describe the case of a patient who presented with limb-girdle weakness and a double trouble scenario -mitochondrial DNA single deletion and a new LMNA mutation.
METHODS: Pathophysiological aspects were investigated with muscle biopsy, Western Blot analysis, NGS nuclear and mtDNA analysis and neuromuscular imaging (muscle and cardiac MRI).
RESULTS: Although secondary mitochondrial involvement is possible, a "double trouble" syndrome can not be excluded.
CONCLUSION: Implication deriving from hypothetical coexistence of two different pathological conditions or the possible secondary mitochondrial involvement are discussed.