Search results for "Ragged-red fibers"
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Giant subcutaneous lipomatosis in Myoclonic Epilepsy with Ragged Red Fibers syndrome: The first literature report of “laparoscopic” excision
2020
Background MERRF (Myoclonic Epilepsy with Ragged Red Fibers) is a rare multisystem clinical disorder due to a pathogenic variant of the mitochondrial DNA. Rare symptoms of MERRF include multiple systemic lipomatosis with symmetric uncapsulated lipomas occurs generally on the posterior cervical region and upper back. Methods We report the clinical case of a 46 years-old Caucasian man with MERRF syndrome who presented with MSL on the right cervical region. We decided to perform a mini-invasive approach using laparoscopic instruments. We performed a 10-mm incision about 5 cm under the mass and conducted a blunt dissection of the subcutaneous plane. Then we positioned a 10-mm port and started C…
MUSCLE BIOENERGETIC ABNORMALITY IN MYOTONIC-DYSTROPHY - A SECONDARY MITOCHONDRIAL DISORDER
1993
International audience; Abstract: The thenar muscles and gastrocnemius of a patient with myotonic dystrophy were investigated, at rest, by phosphorus nuclear magnetic resonance spectroscopy. A decrease in phosphocreatine level and an increase in inorganic phosphate and phosphodiester levels were found in the gastrocnemius, which was clinically spared, whilst the thenar muscles, which were wasted and affected by myotonia, exhibited only an increased inorganic phosphate level and an elevated pH. These findings were comparable with those found in other muscular disorders, such as Duchenne's and Becker's dystrophies, as well as in limb girdle dystrophy. They suggested that the abnormalities obs…