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Neuromuscular Disorders, 2021 Core myopathies are clinically, pathologically, and genetically heterogeneous muscle diseases. Their onset and clinical severity are variable. Core myopathies are diagnosed by muscle biopsy showing focally reduced oxidative enzyme activity and can be pathologically divided into central core disease, multiminicore disease, dusty core disease, and core ...
Masashi Ogasawara, Ichizo Nishino
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Tracheostomy in children with nemaline core myopathy
International Journal of Pediatric Otorhinolaryngology, 2005Two children with nemaline core myopathy (NM) who required tracheostomy are reported. One had a severe neonatal form requiring tracheostomy in the neonatal period for continuous mechanical ventilation. The other had a milder form with obstructive sleep apnoea, who underwent tracheostomy at age 22 months after adenoidectomy and a trial of nocturnal ...
Robert G Berkowitz
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Central core myopathy with autophagy
Muscle and Nerve, 2017Mariz Vainzof +2 more
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Seminars in Pediatric Neurology, 2011
The core myopathies, Central Core Disease and Multiminicore Disease, are heterogeneous congenital myopathies with the common defining histopathological feature of focally reduced oxidative enzyme activity (central cores, multiminicores). Mutations in the gene encoding for the skeletal muscle ryanodine (RyR1) receptor are the most common cause ...
Jungbluth, Heinz +2 more
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The core myopathies, Central Core Disease and Multiminicore Disease, are heterogeneous congenital myopathies with the common defining histopathological feature of focally reduced oxidative enzyme activity (central cores, multiminicores). Mutations in the gene encoding for the skeletal muscle ryanodine (RyR1) receptor are the most common cause ...
Jungbluth, Heinz +2 more
openaire +3 more sources
Myopathy with core-like structures in a dog
Journal of Comparative Pathology, 1987Core-like structures were seen histologically in many of the fibres of the triceps and biceps femoris muscles of an 18-months-old male Great Dane with muscle weakness and moderate proximal muscular atrophy. The structures were lightly staining and lacked cross-striations. Some contained vacuoles and nuclei.
S J, Newsholme, C J, Gaskell
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Core Myopathies and Risk of Malignant Hyperthermia
Anesthesia & Analgesia, 2009In this article, we analyze myopathies with cores, for which an association to malignant hyperthermia (MH) has been suggested. We discuss the clinical features, the underlying genetic defects, subsequent effects on cellular calcium metabolism, and in vitro muscle responses to MH triggers.
Klingler, Werner +4 more
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Core myopathies and malignant hyperthermia susceptibility: a review
Pediatric Anesthesia, 2013SummaryThe core myopathies are a subset of myopathies that present in infancy with hypotonia and muscle weakness. They were formerly considered a rare type of congenital myopathy but are now recognized as being more prevalent. Due to their genetic linkage to mutations in the ryanodine receptor gene (RYR1), core myopathies (in particular, central core ...
Robert P, Brislin, Mary C, Theroux
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Central core myopathy in a great dane
Journal of Small Animal Practice, 1994ABSTRACTAn eight‐month‐old female great dane was referred for investigation of exercise intolerance that had developed progressively over one month. Examination revealed poor muscle mass, elevated plasma levels of muscle‐associated enzymes and electromyographic abnormalities.
M. P. Targett +5 more
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Myopathy with Multiple Central Cores. A Case with Hypersensitivity to Pyrexia
Neuropediatrics, 1978An eight-year-old male suffered from long-standing proximal muscle weakness, dramatically aggravated by febrile episodes. Neuromuscular work-up disclosed a myopathy with multiple central cores of non-familial nature. The presence of central cores in this patient as well as in the myopathy of malignant hyperpyrexia might suggest a pathophysiological ...
N, Gadoth, D, Margalit, Y, Shapira
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