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Protein Abnormalities in Neuromuscular Diseases—Part 2 FREE

W. King Engel, MD; Dale E. McFarlin, MD; Genevieve A. Drews, MD; R. Dean Wochner, MD
[+] Author Affiliations

Part 1 appeared in the February 28 issue of JAMA, pages 754-760.

Parts 1 and 2 are available as a combined reprint. Address requests to Medical Neurology Branch. National Institute of Neurological Diseases and Blindness, Bethesda, Md 20014 (Dr. Engel).


JAMA. 1966;195(10):837-842. doi:10.1001/jama.1966.03100100089025
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Tissue Protein Deficiency  Phosphorylase in Muscle Phosphorylase DeficiencyDr. Engel: The first example of tissue protein deficiency is illustrated by a 52-year-old woman who had progressive muscle weakness and wasting in the proximal-limb and trunk regions from age 48, but she was apparently quite normal up to that time (Fig 12). Clinical and laboratory studies indicated that she had a disease of muscle, that is, a myopathy. Known causes of myopathy beginning in her age group, such as collagen-vascular disease and distant neoplasia, could not be found by careful studies. At that point the diagnosis appeared to be the most common one in female patients of her age group—namely, late-onset myopathy, cause unknown.The muscle biopsy confirmed that there was a myopathy, evidenced by disruption of the internal architecture of the muscle fibers and increased connective tissue around individual muscle fibers. However, an additional finding turned up.Routine histochemistry revealed

REFERENCES

Engel, W.K.; Eyerman, E.L.; and Williams, H.E.:  Late-Onset Type of Skeletal-Muscle Phosphorylase Deficiency: A New Familial Variety With Completely and Partially Affected Subjects , New Eng J Med 268:135-137 ( (Jan 17) ) 1963;.
McArdle, B.:  Myopathy due to a Defect in Muscle Glycogen Breakdown , Clin Sci 10:13-35 ( (Feb) ) 1951;.
Schmid, R., and Mahler, R.:  Chronic Progressive Myopathy With Myoglobinuria: Demonstrations of Glycogenolytic Defect in the Muscle , J Clin Invest 38:2044-2058 ( (Nov) ) 1959;.
Pearson, C.M.; Rimer, D.G.; and Mommaerts, W.F.:  Metabolic Myopathy due to Absence of Muscle Phosphorylase , Amer J Med 30:502-517 ( (April) ) 1961;.
Robbins. P.W.:  Immunological Study of Human Muscle Lacking Phosphorylase , Fed Proc 19:193,1960;.
McArdle, B.:  Metabolic Myopathies: The Glycogenoses Affecting Muscle, and Hypo- and Hyperkalemic Periodic Paralysis , Amer J Med 35:661-672 ( (Nov) ) 1963;.
Whorton, C.M.; Hudgins, P.C.; and Conners, J.J.:  Abnormal Spectrophotometric Absorption Spectrums of Myoglobin in Two Forms of Progressive Muscular Dystrophy , New Eng J Med 265:1242-1245 ( (Dec) ) 1961;.
Perkoff, G.T.:  Studies of Human Myoglobin in Several Diseases of Muscle , New Eng J Med 270:263-269 ( (Feb) ) 1964;.
Miyoshi, K., et al:  Abnormal Myoglobin Ultraviolet Spectrum in Duchenne Type of Progressive Muscular Dystrophy , Science 142:490-491 ( (Oct 25) ) 1963;.
Kossmann, R.J.; Camp, W.A.; and Engle, R.L., Jr.:  Idiopathic Recurrent Rhabodomyolysis With Myoglobinuria , Amer J Med 34:554-564 ( (April) ) 1963;.
Kossmann, R.J.; Fainer, D.F.; and Boyer, S.H.:  A Study of Myoglobin in Disease With Comments Concerning the Myoglobin Minor Components , Symp Quant Biol 29:375-385, 1964;.
Gafni, J.; Sohar, E.; and Heller, H.:  The Inherited Amyloidoses: Their Clinical and Theoretical Significance , Lancet 1: 71-74 ( (Jan 11) ) 1964;.
Andrade, C.:  A Peculiar Form of Peripheral Neuropathy , Brain 75:408-427 ( (April) ) 1952;.
Kaufman, H.E.:  Primary Familial Amyloidosis , Arch Ophthal 60:1036-1043 ( (Dec) ) 1958;.
Sjögren, H.:  Zur Kenntnis der Keratoconjuntivitis sicca , Acta Ophthal , (suppl 2) , pp 1-151,1933;.
Morgan, W.S.:  The Probably Systemic Nature of Mikulicz's Disease and Its Relation to Sjögrens Syndrome , New Eng J Med 251:5-10 ( (July 1) ) 1954;.
Bunim, J.J.:  A Broader Spectrum of Sjögren's Syndrome and Its Pathogenetic Implications , Ann Rheum Dis 20:1-10 ( (March) ) 1961;.
Marcaud-Raeber, L., Schapira, G., and Dreyfus, J.-C.:  Sur une nouvelle protéine myofibrillaire, la métamyosine: Observation et isolement , Bull Soc Chim Biol 41:283-295,1959;.
Conen, P.E.; Murphy, E.G.; and Donohue, W.L.:  Light and Electron Microscopic Studies of "Myogranules" in a Child With Hypotonia and Muscle Weakness , Canad Med Assoc J 89:983-986 ( (Nov 9) ) 1963;.
Shy, G.M., et al:  Nemaline Myopathy: A New Congenital Myopathy , Brain 86:793-810 ( (Dec) ) 1963;.
Engel, W.K.; Wanko, T.; and Fenichel, G.M.:  Nemaline Myopathy: A Second Case , Arch Neurol 11:22-39 ( (July) ) 1964;.

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Engel, W.K.; Eyerman, E.L.; and Williams, H.E.:  Late-Onset Type of Skeletal-Muscle Phosphorylase Deficiency: A New Familial Variety With Completely and Partially Affected Subjects , New Eng J Med 268:135-137 ( (Jan 17) ) 1963;.
McArdle, B.:  Myopathy due to a Defect in Muscle Glycogen Breakdown , Clin Sci 10:13-35 ( (Feb) ) 1951;.
Schmid, R., and Mahler, R.:  Chronic Progressive Myopathy With Myoglobinuria: Demonstrations of Glycogenolytic Defect in the Muscle , J Clin Invest 38:2044-2058 ( (Nov) ) 1959;.
Pearson, C.M.; Rimer, D.G.; and Mommaerts, W.F.:  Metabolic Myopathy due to Absence of Muscle Phosphorylase , Amer J Med 30:502-517 ( (April) ) 1961;.
Robbins. P.W.:  Immunological Study of Human Muscle Lacking Phosphorylase , Fed Proc 19:193,1960;.
McArdle, B.:  Metabolic Myopathies: The Glycogenoses Affecting Muscle, and Hypo- and Hyperkalemic Periodic Paralysis , Amer J Med 35:661-672 ( (Nov) ) 1963;.
Whorton, C.M.; Hudgins, P.C.; and Conners, J.J.:  Abnormal Spectrophotometric Absorption Spectrums of Myoglobin in Two Forms of Progressive Muscular Dystrophy , New Eng J Med 265:1242-1245 ( (Dec) ) 1961;.
Perkoff, G.T.:  Studies of Human Myoglobin in Several Diseases of Muscle , New Eng J Med 270:263-269 ( (Feb) ) 1964;.
Miyoshi, K., et al:  Abnormal Myoglobin Ultraviolet Spectrum in Duchenne Type of Progressive Muscular Dystrophy , Science 142:490-491 ( (Oct 25) ) 1963;.
Kossmann, R.J.; Camp, W.A.; and Engle, R.L., Jr.:  Idiopathic Recurrent Rhabodomyolysis With Myoglobinuria , Amer J Med 34:554-564 ( (April) ) 1963;.
Kossmann, R.J.; Fainer, D.F.; and Boyer, S.H.:  A Study of Myoglobin in Disease With Comments Concerning the Myoglobin Minor Components , Symp Quant Biol 29:375-385, 1964;.
Gafni, J.; Sohar, E.; and Heller, H.:  The Inherited Amyloidoses: Their Clinical and Theoretical Significance , Lancet 1: 71-74 ( (Jan 11) ) 1964;.
Andrade, C.:  A Peculiar Form of Peripheral Neuropathy , Brain 75:408-427 ( (April) ) 1952;.
Kaufman, H.E.:  Primary Familial Amyloidosis , Arch Ophthal 60:1036-1043 ( (Dec) ) 1958;.
Sjögren, H.:  Zur Kenntnis der Keratoconjuntivitis sicca , Acta Ophthal , (suppl 2) , pp 1-151,1933;.
Morgan, W.S.:  The Probably Systemic Nature of Mikulicz's Disease and Its Relation to Sjögrens Syndrome , New Eng J Med 251:5-10 ( (July 1) ) 1954;.
Bunim, J.J.:  A Broader Spectrum of Sjögren's Syndrome and Its Pathogenetic Implications , Ann Rheum Dis 20:1-10 ( (March) ) 1961;.
Marcaud-Raeber, L., Schapira, G., and Dreyfus, J.-C.:  Sur une nouvelle protéine myofibrillaire, la métamyosine: Observation et isolement , Bull Soc Chim Biol 41:283-295,1959;.
Conen, P.E.; Murphy, E.G.; and Donohue, W.L.:  Light and Electron Microscopic Studies of "Myogranules" in a Child With Hypotonia and Muscle Weakness , Canad Med Assoc J 89:983-986 ( (Nov 9) ) 1963;.
Shy, G.M., et al:  Nemaline Myopathy: A New Congenital Myopathy , Brain 86:793-810 ( (Dec) ) 1963;.
Engel, W.K.; Wanko, T.; and Fenichel, G.M.:  Nemaline Myopathy: A Second Case , Arch Neurol 11:22-39 ( (July) ) 1964;.
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