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Nemaline Myopathy Appearing in Adults as Cardiomyopathy: A Clinicopathologic Study

Nemaline Myopathy Appearing in Adults as Cardiomyopathy: A Clinicopathologic Study Abstract • We examined a 29-year-old woman with nemaline myopathy that appeared as cardiomyopathy. Clinical examination showed dilated cardiomyopathy, but no neuromuscular abnormalities of the skeletal muscles. Electromyography showed neither neurogenic nor myopathic abnormalities. A biopsy specimen from the quadripecs muscle showed typical nemaline bodies in about 50% of the muscle fibers. The patient died six months later of biventricular heart insufficiency. Autopsy revealed nemaline bodies in the working and conducting tissues of the myocardium. Earlier, the patient's mother and one of her sisters died unexplained, sudden deaths at the ages of 47 and 37 years, respectively. Sections of the myocardium taken from the sister at autopsy were available, and also disclosed nemaline bodies after restaining with trichrome. References 1. Bender AN, Willner JP: Nemaline (rod) myopathy: The need for histochemical evaluation of affected families . Ann Neurol 1978;4:37-42.Crossref 2. Kondo K, Yuasa T: Genetics of congenital nemaline myopathy . Muscle Nerve 1980;3:308-315.Crossref 3. Kulakowski S, Flament-Durant J, Malaisse-Lagae F, et al: Myopathie a batonnets (nemaline myopathy) . Arch Fr Pediatr 1973;30:505-526. 4. Shy GM, Engel EK, Somers JE, et al: Nemaline myopathy: A new congenital myopathy . Brain 1963;86:793-810.Crossref 5. Conen PE, Murphy EG, Donohue WL: Light and electron microscopic studies of 'myogranules' in a child with hypotonia and muscle weakness . Can Med Assoc J 1963;9:983-986. 6. Brownwell AKW, Gilbert JJ, Shaw DT, et al: Adult onset nemaline myopathy . Neurology 1978;28:1306-1309.Crossref 7. Kampati G, Carpenter S, Andermann F: A new concept of childhood nemaline myopathy . Arch Neurol 1971;24:291-304.Crossref 8. Dahl DS, Lutzow FW: Congenital rod disease: Further evidence of innervational abnormalities as the basis for clinicopathologic features . J Neurol Sci 1974;37:123-126. 9. Price HM, Gordon GB, Pearson CM, et al: New evidence for excessive accumulation of Z-band material in nemaline myopathy . Proc Natl Acad Sci USA 1965;54:1398-1406.Crossref 10. Engel AG, Gomez MR: Nemaline (twodisk) myopathy: Observations on the origin, structure and solubility properties of nemaline structures . J Neuropathol Exp Neurol 1967; 26:601-619.Crossref 11. Yamaguchi M, Robson RM, Stromer MH, et al: Nemaline myopathy rod bodies: Structure and compositions . J Neurol Sci 1982;56:35-56.Crossref 12. Johnson AR, Palacios I: Dilated cardiomyopathy in the adult: Part II . N Engl J Med 1982;307:1119-1126.Crossref http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Archives of Neurology American Medical Association

Nemaline Myopathy Appearing in Adults as Cardiomyopathy: A Clinicopathologic Study

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Publisher
American Medical Association
Copyright
Copyright © 1984 American Medical Association. All Rights Reserved.
ISSN
0003-9942
eISSN
1538-3687
DOI
10.1001/archneur.1984.04050160109025
Publisher site
See Article on Publisher Site

Abstract

Abstract • We examined a 29-year-old woman with nemaline myopathy that appeared as cardiomyopathy. Clinical examination showed dilated cardiomyopathy, but no neuromuscular abnormalities of the skeletal muscles. Electromyography showed neither neurogenic nor myopathic abnormalities. A biopsy specimen from the quadripecs muscle showed typical nemaline bodies in about 50% of the muscle fibers. The patient died six months later of biventricular heart insufficiency. Autopsy revealed nemaline bodies in the working and conducting tissues of the myocardium. Earlier, the patient's mother and one of her sisters died unexplained, sudden deaths at the ages of 47 and 37 years, respectively. Sections of the myocardium taken from the sister at autopsy were available, and also disclosed nemaline bodies after restaining with trichrome. References 1. Bender AN, Willner JP: Nemaline (rod) myopathy: The need for histochemical evaluation of affected families . Ann Neurol 1978;4:37-42.Crossref 2. Kondo K, Yuasa T: Genetics of congenital nemaline myopathy . Muscle Nerve 1980;3:308-315.Crossref 3. Kulakowski S, Flament-Durant J, Malaisse-Lagae F, et al: Myopathie a batonnets (nemaline myopathy) . Arch Fr Pediatr 1973;30:505-526. 4. Shy GM, Engel EK, Somers JE, et al: Nemaline myopathy: A new congenital myopathy . Brain 1963;86:793-810.Crossref 5. Conen PE, Murphy EG, Donohue WL: Light and electron microscopic studies of 'myogranules' in a child with hypotonia and muscle weakness . Can Med Assoc J 1963;9:983-986. 6. Brownwell AKW, Gilbert JJ, Shaw DT, et al: Adult onset nemaline myopathy . Neurology 1978;28:1306-1309.Crossref 7. Kampati G, Carpenter S, Andermann F: A new concept of childhood nemaline myopathy . Arch Neurol 1971;24:291-304.Crossref 8. Dahl DS, Lutzow FW: Congenital rod disease: Further evidence of innervational abnormalities as the basis for clinicopathologic features . J Neurol Sci 1974;37:123-126. 9. Price HM, Gordon GB, Pearson CM, et al: New evidence for excessive accumulation of Z-band material in nemaline myopathy . Proc Natl Acad Sci USA 1965;54:1398-1406.Crossref 10. Engel AG, Gomez MR: Nemaline (twodisk) myopathy: Observations on the origin, structure and solubility properties of nemaline structures . J Neuropathol Exp Neurol 1967; 26:601-619.Crossref 11. Yamaguchi M, Robson RM, Stromer MH, et al: Nemaline myopathy rod bodies: Structure and compositions . J Neurol Sci 1982;56:35-56.Crossref 12. Johnson AR, Palacios I: Dilated cardiomyopathy in the adult: Part II . N Engl J Med 1982;307:1119-1126.Crossref

Journal

Archives of NeurologyAmerican Medical Association

Published: Apr 1, 1984

References