Summary
The most prominent ultrastructural feature of muscle tissue in two siblings with a childhood-onset myopathy was the presence of giant mitochondria of up to 4 μm in length.
The mitochondria had no tendency to aggregate and kept their normal localization among the myofibrils. Such a megaconial myopathy was first described by Shy and Gonatas (1964),
In our family two members had the disease and consanguinity between their parents was present. These data suggest that megaconial myopathy might be a real nosologic entity genetically transmitted as an autosomal recessive trait.
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References
Buscaino GA, De Giacomo P, Perniola T, La Bianca O (1969) Su due casi di miopatia mitocondriale: aspetti clinici, istologici, istochimici. Boll Soc Ital Biol Sper 45:221–224
Coleman RF, Nienhuis AW, Brown WJ, Munsat TL, Pearson CP (1967) New myopathy with mitochondrial enzyme hyperactivity. J Am Med Assoc 199:624–630
D'Agostino AN, Zitter A, Rallison ML, Bray PF (1968) Familial myopathy with abnormal muscle mitochondria. Arch Neurol 18:388–401
Di Mauro S (1979) Metabolic myopathies. In: Vinken PJ, Bruyn GW (eds) Handbook of clinical neurology, vol 41. North-Holland, Amsterdam, pp 175–234
Hulsmann WC, Bethlem J, Meijer AEFH, Fleury P, Schellens JPM (1967). Myopathy with abnormal structure and function of muscle mitochondria. J Neurol Neurosurg Psychiatry 30: 519–525
Morgan-Hughes JA, Darveniza P, Kalm SN, Landon DN, Sherratt RM, Land JM, Clark JB (1977) A mitochondrial myopathy characterized by a deficiency in reducible cytochrome b. Brain 100:617–640
Morgan-Hughes JA, Darveniza P, Landon DN, Land JM, Clark JB (1979) A mitochondrial myopathy with a deficiency of respiratory chain NADH-Co Q reductase activity. J Neurol Sci 43:27–46
Price HM, Gordon GB, Munsat TL, Pearson CM (1967) Myopathy with atypical mitochondria in type I skeletal muscle fibers. J Neuropathol Exp Neurol 26:475–497
Schellens JPM, Ossentjuk E (1969) Mitochondrial ultrastructure with crystalloid inclusions in an unusal type of human myopathy. Virchows Arch [Cell Pathol] 4:21–29
Shy GM, Gonatas NK (1964) Human myopathy with giant abnormal mitochondria. Science 145:493–496
Shy GM, Gonatas NK, Perez M (1966) Two childhood myopathies with abnormal mitochondria: I. Megaconial myopathy. II. Pleioconial myopathy. Brain 89:133–158
Spiro AJ, Prineas JW, Moore CL (1970) A new mitochondrial myopathy in a patient with salt craving. Arch Neurol 22:259–269
Tarlow MJ, Lake BD, Lloyd JK (1973) Chronic lactic acidosis in association with myopathy. Arch Dis Child 48:489–492
Van Wijngaarden GK, Bethlem J, Meijer AEFH, Hulsmann WC, Feltkamp C (1967). Skeletal muscle disease with abnormal mitochondria. Brain 90:577–592
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Supported in part by a grant from “Legato Dino Ferrari”; Maranello, Modena, Italy
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Pellegrini, G., Moggio, M., Cheldi, A. et al. Familial megaconial myopathy: A real nosologic entity. Acta Neuropathol 59, 70–74 (1983). https://doi.org/10.1007/BF00690319
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DOI: https://doi.org/10.1007/BF00690319