Key result
A patient with limb-girdle weakness presented with a 'double trouble' scenario involving both a mitochondrial DNA single deletion and a new LMNA frameshift variant.
Case Report (n=1)
The case highlights the potential coexistence of a mitochondrial DNA deletion and a novel LMNA frameshift variant in a patient with limb-girdle weakness.
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.
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Montano et al. (2022) conducted a case report in Limb-girdle weakness / myopathy (n=1). Mitochondrial DNA single deletion and new LMNA mutation was evaluated on Pathophysiological aspects (muscle biopsy, Western Blot, NGS, MRI). A patient with limb-girdle weakness presented with a 'double trouble' scenario involving both a mitochondrial DNA single deletion and a new LMNA frameshift variant.
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