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New Myopathy With Mitochondrial Enzyme Hyperactivity: Title and subTitle BreakHistochemical Demonstration FREE

Ralph F. Coleman, MD; Arthur W. Nienhuis; W. Jann Brown, MD; Theodore L. Munsat, MD; Carl M. Pearson, MD
[+] Author Affiliations

Reprint requests to 10833 Le Conte, Los Angeles 90024 (Dr. Coleman).


From the departments of pathology (Drs. Coleman and Brown and Mr. Nienhuis) and medicine (Drs. Munsat and Pearson), School of Medicine, University of California, Los Angeles.


JAMA. 1967;199(9):624-630. doi:10.1001/jama.1967.03120090066012
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Applicationochemical techniques to the t study of skeletal muscle biopsies has led to the description of two new clinical pathological entities.1,2 The value of these techniques in the study of neuromuscular disease has been detailed and emphasized by Engel.3 A third myopathy with histochemically and ultrastructurally abnormal mitochondria has been described.4,5 Recently we have obtained muscle biopsies from two patients whose clinical course was characterized by the onset during the first decade of life of progressive muscle fatigability, weakness, and slight atrophy, which was more prominent in the proximal muscles. Only focal fiber generation and occasional subsarcolemmous vacuoles were seen on routine histological sections, but application of histochemical techniques clearly defined abnormal mitochondria. These mitochondria were very active enzymatically and were present in 30% to 40% of the skeletal muscle fibers from both of these patients.

Report of Cases 

Case 1.—  A 9-year-old white girl was

REFERENCES

Shy, G.M., and Magee, R.:  A New Congenital Nonprogressive Myopathy , Brain 79:610-622 ( (Dec) ) 1956;.
Shy, G.M., et al:  Nemaline Myopathy: A New Congenital Myopathy , Brain 86:793-810 ( (Dec) ) 1963;.
Engel, W.K.:  The Essentiality of Histo- and Cyto-chemical Studies of Skeletal Muscle in the Investigation of Neuromuscular Disease , Neurology 12:778-794 ( (Nov) ) 1962;.
Shy, G.M., and Gonatos, N.K.:  Human Myopathy With Giant Abnormal Mitochondria , Science 145:493-496 ( (July 31) ) 1964;.
Shy, G.M.; Gonatos, N.K.; and Perez, M.:  Two Childhood Myopathies With Abnormal Mitochondria: I. Megaconial Myopathy; II. Pleoconial Myopathy , Brain 89:133-158 ( (March) ) 1966;.
Pearson, C.M.; Rimer, D.R.; and Mommaerts, W.H.F.M.:  A Metabolic Myopathy Due to the Absence of Muscle Phosphorylase , Amer J Med 30:502-517 ( (April) ) 1961;.
Barka, T., and Anderson, P.J.: Histochemistry: Theory, Practice, and Bibliography , New York: Harper and Row, Publishers, Inc., 1963;.
Van Wijhe, M.; Blanchaer, M.C.; and Jacyk, W.R.:  The Oxidation of Lactate and a-Glycerolphosphate by Red and White Skeletal Muscle: II. Histochemical Studies , J Histochem Cytochem 11:505-510 ( (July) ) 1963;.
Coleman, R.F., and Nienhuis, A.W.:  Histochemical Demonstration of Pyruvate and a-Ketoglutarate Oxidases by Nitro BT Reduction , J Histochem Cytochem 14:811-813 ( (Nov) ) 1966;.
Luft, R., et al:  A Case of Severe Hypermetabolism of Nonthyroid Origin With a Defect in Mitochondrial Respiratory Control: A Correlated Clinical, Biochemical, and Morphological Study , J Clin Invest 41:1776-1804 ( (Sept) ) 1962;.
Engel, W.K.:  Mitochondrial Aggregates in Muscle Disease , J Histochem Cytochem 12:46-48 ( (Jan) ) 1964;.

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Country-Specific Mortality and Growth Failure in Infancy and Yound Children and Association With Material Stature

Use interactive graphics and maps to view and sort country-specific infant and early dhildhood mortality and growth failure data and their association with maternal

Shy, G.M., and Magee, R.:  A New Congenital Nonprogressive Myopathy , Brain 79:610-622 ( (Dec) ) 1956;.
Shy, G.M., et al:  Nemaline Myopathy: A New Congenital Myopathy , Brain 86:793-810 ( (Dec) ) 1963;.
Engel, W.K.:  The Essentiality of Histo- and Cyto-chemical Studies of Skeletal Muscle in the Investigation of Neuromuscular Disease , Neurology 12:778-794 ( (Nov) ) 1962;.
Shy, G.M., and Gonatos, N.K.:  Human Myopathy With Giant Abnormal Mitochondria , Science 145:493-496 ( (July 31) ) 1964;.
Shy, G.M.; Gonatos, N.K.; and Perez, M.:  Two Childhood Myopathies With Abnormal Mitochondria: I. Megaconial Myopathy; II. Pleoconial Myopathy , Brain 89:133-158 ( (March) ) 1966;.
Pearson, C.M.; Rimer, D.R.; and Mommaerts, W.H.F.M.:  A Metabolic Myopathy Due to the Absence of Muscle Phosphorylase , Amer J Med 30:502-517 ( (April) ) 1961;.
Barka, T., and Anderson, P.J.: Histochemistry: Theory, Practice, and Bibliography , New York: Harper and Row, Publishers, Inc., 1963;.
Van Wijhe, M.; Blanchaer, M.C.; and Jacyk, W.R.:  The Oxidation of Lactate and a-Glycerolphosphate by Red and White Skeletal Muscle: II. Histochemical Studies , J Histochem Cytochem 11:505-510 ( (July) ) 1963;.
Coleman, R.F., and Nienhuis, A.W.:  Histochemical Demonstration of Pyruvate and a-Ketoglutarate Oxidases by Nitro BT Reduction , J Histochem Cytochem 14:811-813 ( (Nov) ) 1966;.
Luft, R., et al:  A Case of Severe Hypermetabolism of Nonthyroid Origin With a Defect in Mitochondrial Respiratory Control: A Correlated Clinical, Biochemical, and Morphological Study , J Clin Invest 41:1776-1804 ( (Sept) ) 1962;.
Engel, W.K.:  Mitochondrial Aggregates in Muscle Disease , J Histochem Cytochem 12:46-48 ( (Jan) ) 1964;.
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