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14 Φεβ 2024 · We performed a retrospective chart review of adult patients diagnosed with mitochondrial myopathy at Mayo Clinic (2005–21). We identified 94 patients. Median time from symptom onset to diagnosis was 11 years (interquartile range 4–21 years). Median age at diagnosis was 48 years (32–63 years).
12 Ιουν 2024 · Mitochondria are specialized compartments within your body's cells that are responsible for creating most of the body's energy. Mitochondrial disease results from failure of mitochondria to function properly. This can lead to less energy, cell injury and cell death.
Herein, we describe the phenotypic and genotypic spectrum and long-term outcomes of mitochondrial myopathies diagnosed in adulthood, focusing on neuromuscular features, electrodiagnostic and myopathological findings and survival.
The authors propose a set of clinical scales, functional tests, performance and patient-reported outcome measures, and biomarkers to be applied to both adults and children affected by mitochondrial myopathy (Mancuso et al., 2017).
Mitochondrial disorders are a heterogeneous group of disorders resulting from primary dysfunction of the respiratory chain. Muscle tissue is highly metabolically active, and therefore myopathy is a common element of the clinical presentation of ...
26 Νοε 2015 · Adult mitochondrial medicine is, therefore, in its infancy, and the challenge is to harness the new understanding of its molecular and cellular basis to develop treatments of real benefit to patients. Keywords: mitochondrial disease, mitochondrial DNA, mitochondrial encephalomyopathy, myopathy, neurometabolic.
30 Αυγ 2023 · Primary mitochondrial myopathies (PMM) are rare disorders with diverse and progressive symptom presentations that cause a substantial, detrimental impact on the quality of life of patients and their caregivers.
