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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 · Mitochondrial disease results from failure of mitochondria to function properly. This can lead to less energy, cell injury and cell death. The most common organs that may experience damage are the brain, heart, liver, muscles, kidneys and the endocrine system.
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.
Mitochondrial myopathies are mitochondrial diseases that cause prominent muscular symptoms such as muscle weakness and usually present with a multitude of symptoms and can affect virtually all organ systems. There is no cure for these diseases as of today.
27 Ιουλ 2017 · Hypothalamic growth hormone deficiency and supplementary GH therapy in two patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes.
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 ...
The aim of this Review is to highlight the substantial progress made in mitochondrial disease research in the past few years, showcasing the important aspects for neurologists to recognise, diagnose, and manage adult patients with mitochondrial disease.