The use of serum creatine phosphokinaseand other serum enzymes in the diagnosis of progressive muscular dystrophy

Swaiman, Kenneth F.; Sandler, Bernard

doi:10.1016/s0022-3476(63)80193-6

Cited by 29 publications

(5 citation statements)

References 13 publications

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“…In certain muscular diseases, as for instance the progressive muscular dystrophies, the blood concentration of intracellular enzymes such as creatine phosphokinase, aldolase, lactic acid dehydrogenase and ghtamate pyruvate transaminase are markedly elevated (10). In our patient the elevation of the serum level of creatine phosphokinase was only slight and intermittent, and the levels of all the other enzymes mentioned were normal, also during periods of muscular weakness.…”

Section: Acta Prediat Scatid 60supporting

confidence: 47%

Intermittent Muscular Weakness, Extrasystoles, and Multiple Developmental Anomalies

1971

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Summary A description is given of an eight‐year‐old boy with extrasystoles, seizures of muscular weakness, and multiple developmental anomalies (dwarfism, scaphocephalic skull, hypertelorism, bilateral ptosis, low‐set ears, broad nose, mandibular hypoplasia, aplasia of a number of teeth, defect of both the soft and osseous palate, inward bending of the fifth fingers, single transverse palmar crease of both hands, and cryptorchidism). These findings suggest a specific syndrome, but no similar description was found in the literature. The investigations disclosed no signs of either a chromosomal, a neuromuscular, or an endocrine disease.

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Section: Acta Prediat Scatid 60supporting

confidence: 47%

Intermittent Muscular Weakness, Extrasystoles, and Multiple Developmental Anomalies

1971

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“…In the case of routine testing of Duchenne patients and the evaluation of carrier detection rates, historically the most frequently used serum enzyme activity has been creatine kinase [201]. In addition to serum creatine kinase [202][203][204][205][206][207][208], other marker enzymes are represented by carbonic anhydrase [209][210][211][212], aldolase [213], adenylate kinase [214][215][216], lactate dehydrogenase [206,207,213] and pyruvate kinase [206,208,217,218]. Assay systems were used with single enzyme activities or combinations of various muscle-derived enzymes in patient serum [206-208, 211, 213].…”

Section: Circulating Biomarkers For Monitoring General Muscle Damagementioning

confidence: 99%

Mass Spectrometry-Based Identification of Muscle-Associated and Muscle-Derived Proteomic Biomarkers of Dystrophinopathies

Dowling

Holland

Ohlendieck

2014

Journal of Neuromuscular Diseases

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The optimization of large-scale screening procedures of pathological specimens by genomic, proteomic and metabolic methods has drastically increased the bioanalytical capability for swiftly identifying novel biomarkers of inherited disorders, such as neuromuscular diseases. X-linked muscular dystrophy represents the most frequently inherited muscle disease and is characterized by primary abnormalities in the membrane cytoskeletal protein dystrophin. Mass spectrometry-based proteomics has been widely employed for the systematic analysis of dystrophin-deficient muscle tissues, using patient samples and animal models of dystrophinopathy. Both, gel-based methods and label-free mass spectrometric techniques have been applied in comparative analyses and established a large number of altered proteins that are associated with muscle contraction, energy metabolism, ion homeostasis, cellular signaling, the cytoskeleton, the extracellular matrix and the cellular stress response. Although these new indicators of muscular dystrophy have increased our general understanding of the molecular pathogenesis of dystrophinopathy, their application as new diagnostic or prognostic biomarkers would require the undesirable usage of invasive methodology. Hence, to reduce the need for diagnostic muscle biopsy procedures, more recent efforts have focused on the proteomic screening of suitable body fluids, such as plasma, serum or urine, for the identification of changed concentration levels of muscle-derived peptides, protein fragments or intact proteins. The occurrence of muscular dystrophy-related protein species in biofluids will be extremely helpful for the future development of cost-effective and non-invasive diagnostic procedures. Novel biomarker signatures of dystrophinopathies will be indispensible for the swift evaluation of innovative therapeutic approaches, such as exon skipping, codon-read-through or stem cell therapy.

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“…Elevated levels of CK, measured in blood serum, are closely associated with muscle cell damage and muscle-related disease [3,4]. The degree of serum CK elevation can be helpful in differentiating different forms of muscular dystrophy, however, may not be elevated in some myopathies, may display variable expression in each stage of the disorder, and can be lowered as a result of factors such as profound muscle wasting [5]. Additionally, differences in both efflux and basal levels of CK have been shown as a result of gender [6], athletic ability, type, intensity and duration of exercise [3], ethnicity [7], alcohol consumption [8] and prescription drugs such as statins [9], indicating the contribution of a broad spectrum of factors to elevations in serum CK levels.…”

Section: Creatine Kinasementioning

confidence: 99%

Potential Biomarkers of Skeletal Muscle Damage

Rebalka

Hawke

2014

Biomarkers Med.

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The use of serum creatine phosphokinaseand other serum enzymes in the diagnosis of progressive muscular dystrophy

Cited by 29 publications

References 13 publications

Intermittent Muscular Weakness, Extrasystoles, and Multiple Developmental Anomalies

Intermittent Muscular Weakness, Extrasystoles, and Multiple Developmental Anomalies

Mass Spectrometry-Based Identification of Muscle-Associated and Muscle-Derived Proteomic Biomarkers of Dystrophinopathies

Potential Biomarkers of Skeletal Muscle Damage

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