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  • 1
    Electronic Resource
    Electronic Resource
    Clinical and biochemical evidence of skeletal muscle involvement in galactose-1-phosphate uridyl transferase deficiency (1993)
    Springer
    Journal of neurology 240 (1993), S. 272-277 
    Details
    ISSN: 1432-1459
    Keywords: Galactose-1-phosphate uridyl transferase deficiency ; Myopathy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract An 8-year-old boy with galactose-1-phosphate uridyl transferase (GALT) deficiency presented with hypotonia, muscle hypotrophy, hepatomegaly, bilateral cataract and mild mental retardation. Two brothers showed a GALT activity consistent with a homozygotic condition and both parents were found to be heterozygotes for this defect. Histological and ultrastructural examination of muscle biopsy specimens showed several necrotic fibres. GALT activity was undetectable in skeletal muscle and muscle tissue cultures; myotubes converted galactose to CO2 at a lower rate than controls. Galactose-1-phosphate was increased in the patient's red cells and muscle tissue. GALT deficiency, not previously described in muscle, may be of pathogenic relevance in determining the myopathic features present in GALT deficiency syndrome.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00838160
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  • 2
    Electronic Resource
    Electronic Resource
    Muscle phosphoglycerate mutase (PGAM) deficiency in the first Caucasian patient: biochemistry, muscle culture and31P-MR spectroscopy (1994)
    Springer
    Journal of neurology 241 (1994), S. 289-294 
    Details
    ISSN: 1432-1459
    Keywords: PGAM deficiency ; Myopathy ; Biochemistry ; Muscle culture ; 31P-MR spectroscopy
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Muscle phosphoglycerate mutase (PGAM) deficiency has been so far identified in only six patients, five of these being African Americans. We report the results of clinical, morphological, biochemical, muscle culture and31P-MR spectroscopy studies in the first Caucasian patient with muscle PGAM deficiency. A 23-year-old man had a 10-year history of cramps after physical exertion with one episode of pigmenturia. Neurological examination and EMG study were normal. ECG and echocardiography revealed hypertrophy of the interventricular septum and slight dilatation of the left chambers of the heart. Muscle biopsy revealed increased glycogen content and some accumulation of mitochondria. Muscle PGAM activity was markedly decreased (6.5% and 9.7% of control value in two different biopsies). Citrate synthase and other mitochondrial respiratory chain enzyme activities were much higher than normal. In contrast to the marked decrease of PGAM activity observed in muscle biopsy, total enzyme activity in the patient's aneural muscle culture was normal, being represented exclusively by BB isoenzyme. The deficiency of PGAM-MM isoenzyme was reproduced in the patient's innervated muscle culture. Muscle31P-MR spectroscopy showed accumulation of phosphomonoesters only on fast “glycolytic” exercise. On “aerobic” exercise, Vmax, calculated from the work-energy cost transfer function, showed an increase consistent with the morphological and biochemical evidence of mitochondrial proliferation. This might represent a sort of compensatory aerobic effort in an attempt to restore muscle power.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00868435
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  • 3
    Electronic Resource
    Electronic Resource
    A case of mitochondrial myopathy, lactic acidosis and complex I deficiency (1990)
    Springer
    Journal of neurology 237 (1990), S. 399-404 
    Details
    ISSN: 1432-1459
    Keywords: Mitochondria ; Muscle ; NADH-CoQ reductase ; 31P nuclear magnetic resonance
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Summary A 34-year-old man affected by exercise intolerance, mild proximal weakness and severe lactic acidosis is described. Muscle biopsy revealed mitochondrial abnormalities and an increase of cytochrome c oxidase histochemical reaction. Biochemical investigations on isolated muscle mitochondria as well as polarographic studies revealed a mitochondrial NADH-CoQ reductase (complex I) deficiency. Mitochondrial dysfunction was confirmed by 31P nuclear magnetic resonance spectroscopy. Immunological investigation showed a generalized reduction of all complex I polypeptides. Genetic analysis did not reveal mitochondrial DNA deletions. The biochemical defect was not present in the patient's muscle tissue culture. Metabolic measurements and functional evaluation showed a reduced mechanical efficiency during exercise.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00314729
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  • 4
    Electronic Resource
    Electronic Resource
    CK-MM PGAM-MM G6PD and am biochemical markers of functional innervated cultured human muscle fibers (1991)
    Springer
    Cytotechnology 5 (1991), S. 176-177 
    Details
    ISSN: 1573-0778
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine , Process Engineering, Biotechnology, Nutrition Technology
    Notes: Results and conclusions The biochemical analyses of the total enzymatic activities of CK. PGAM in innervated cultures with advanced morphological maturation showed a progressive increase up to 60 days after innervation, fetal isozyme patterns of CK-BB and PGAM-BB at early stage of innervation and almost complete transition of CK and PGAM from BB to MM isozymes in more advanced stage of innervation (Figs 1, 2). Time course of G6PD activity in parallel cultures showed a higher activity in early stages of myogenesis(myoblastmyotube: 121.4+/-10 nM/min/mg prot) and in early phase of innervation (30 days after innervation: 109.66+/-26.10 nM/min/mg prot) with a decline of activity in advanced stage of innervation (60 days after innervation: 82.33+/-36.55 nM/min/mg prot) A progressive increase of AM activity in mid (30 days after innervation: 1623.66+/-10.96 pM/min/mg prot) and late stage of innervation (45 days after innervation: 2150.33+/-568.27 pM/min/mg prot) in comparison with aneural (536+/-107.39 pM/min/mg prot) was also found our study suggests these enzymes as biochemical markers of functional innervation of cultured human muscle fibers.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF00736842
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  • 5
    Electronic Resource
    Electronic Resource
    Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian Paramyotonia Congenita (PC) family (1994)
    Springer
    Neurological sciences 15 (1994), S. 473-480 
    Details
    ISSN: 1590-3478
    Keywords: myotonia ; sodium channel ; mutation ; paramyotonia congenita ; mexiletine
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Le paralisi periodiche costituiscono un gruppo di miopatie a carattere autosomico dominante caratterizzate da episodi transitori crampiformi e da ipostenia. La sintomatologia descritta è scatenata solitamente da eccessiva esposizione di alcuni segmenti corporei (solitamente mani, piedi ed orbicolare degli occhi) alle basse temperature (come si verifica nei casi di paramiotonia congenita, PC) oppure da variazioni spontanee o indotte del potassio extracellulare (come si verifica nei casi di paralisi iper-, HYPP o ipokaliemica, HypoPP). È ormai noto che il gene responsabile per le forme di HYPP e di PC è localizzato sul cromosoma 17 e le variazioni fenotipiche correlate indicano che vi sono varianti alleliche di tali disordini. Finora queste forme sono state descritte in numerosi gruppi etnici ma non sono mai state riconosciute in Italia. Descriviamo una mutazione del segmento S4 del canale muscolare umano del sodio in una famiglia italiana con un fenotipo caratteristico per una paramiotonia congenita, a trasmissione autosomica dominante, interessante tutti i membri della famiglia da noi studiata fin dalla giovane età.
    Notes: Abstract The periodic paralyses are a group of autosomal dominant muscle diseases sharing the common feature of episodic stiffness and weakness, usually occurring with muscle cooling (as in the case of paramyotonia congenita, PC pheno-type) or changes in extracellular K+ levels resulting from various precipitating factors (hyperkalemic periodic paralysis, HYPP and hypokalemic periodic paralysis, Hypo PP). It is now known that HYPP maps to chromosome 17q, and that PC and a form of myotonia congenita without periodic paralysis also map to the 17q locus, thus indicating that they derive from allelic variants. So far, these disorders have been described in various ethnic groups but, to our knowledge, have never been reported in Italy. We describe a mutation in an S4 segment of the adult skeletal muscle sodium channel in a clinically-defined Italian family that leads to the paramyotonia congenita (PC) phenotype with dominant autosomal inheritance and temperature-related symptoms (regional weakness following cooling and exercise), present since childhood in all of the affected family members.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02334608
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  • 6
    Electronic Resource
    Electronic Resource
    Stable hybrid myotubes: A new model for studying re-expression of enzymatic activities in vitro (1993)
    Springer
    Neurological sciences 14 (1993), S. 35-43 
    Details
    ISSN: 1590-3478
    Keywords: Muscle cell culture ; hybrid myotubes ; heterokaryons ; gene activation ; fluorescent latex microspheres ; Hoechst stain ; glucose-6-phosphate dehydrogenase ; myoblast transplantation
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Il modello degli ibridi costituisce un sistema valido e riproducibile per studiare gli aspetti biochimici e molecolari implicati nell'attivazione genica. Tale sistema di fusione è stato utilizzato da precedenti autori per dimostrare l'attivazione di specifici geni umani in ibridi formati dalla fusione di cellule umane con cellule non-umane. Lo scopo di questa ricerca è stato quello di applicare il modello sperimentale degli ibridi per valutare la correzione di un'attività citoplasmatica, quale la glucosio-6-fosfato deidrogenasi (G6PD), in vitro, in ibridi formati tra mioblasti G6PD-deficitari e normali. Sono stati impiegati diverse metodiche per identificare i miotubi ibridi (colorante nucleo-specifico, Hoechst e microsfere di lattice fluorescinate e rodaminate). I nostri risultati indicano che vi è un ripristino dell'attività G6PD in tutti i miotubi ibridi formati; abbiamo quindi tentato di comprendere i meccanismi specifici sottostanti alla ricomparsa di quest'attività enzimatica per poterli applicare alla comprensione dei più complessi meccanismi implicati nell'attivazione di geni muscolari.
    Notes: Abstract Heterokaryons represent a stable and reproducible model system for the study of biochemical and molecular aspects responsible for muscle gene activation. Previous experiments have used this fusion system to demonstrate human gene activation in hybrids formed between human and non-human cells. The aim of this research was to apply this experimental model to the correction of a cytoplasmic activity, namely glucose-6-phosphate dehydrogenase (G6PD), in vitro, in hybrid myotubes formed between G6PD-negative and positive myoblasts. Different identification methods were used (Hoechst stain and Fluorescent Latex Microspheres, FLMs) to identify hybrid myotubes formed. We demonstrated the restoration of G6PD activity in all hybrid myotubes formed; we then tried to elucidate the mechanisms underlying the restoration of this specific activity and apply the results obtained to the understanding of more complex mechanisms involved in muscle gene activation.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02339040
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  • 7
    Electronic Resource
    Electronic Resource
    Hereditary human myopathies in muscle culture (1991)
    Springer
    Neurological sciences 12 (1991), S. 257-268 
    Details
    ISSN: 1590-3478
    Keywords: Human muscle cultures ; clones ; nerve-muscle cocultures ; cell lines ; heterokaryons ; myoblast transfer ; gene transfer ; Myo D ; cybrid clones ; hereditary human myopathies
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario L'Autore illustra l'utilità e i limiti delle colture di muscolo umano nello studio delle miopatie umane ereditarie. In particolare nelle miopatie dovute a difetti di enzimi-specifici muscolari, l'utilizzo di tecniche di cocoltura muscolo-nervo con avanzato grado di maturazione muscolare permette di delucidare i meccanismi molecolari patogenetici di tali malattie. L'uso di avanzate tecniche di biologia molecolare e cellulare, quali linee permanenti, trapianto di mioblasti, trasferimento genico e di mitocondri, oltre che fornire utili informazioni a livello molecolare potranno trovare applicazione, in futuro, persino nella terapia di molte miopatie ereditarie.
    Notes: Abstract In this article I illustrated the use of regenerating human muscle cultures for studying the hereditary human myopathies. Although some of the data are still controversial, they do point up the great potential of this “in vitro system”. For hereditary myopathies due to developmentally regulated proteins that are expressed only at a more advanced stage of muscle differentiation, the use of highly differentiated nerve-muscle cocultures might contribute significantly to a better understanding of their developmental pathogenesis. More advanced techniques (permanent human muscle cell lines, heterokaryons, myoblast transfer, gene transfer, myogenic conversion of human non-muscle cells, cybrid clones) may provide a great deal of information at molecular level and may also have practical applications in the diagnosis or even in the treatment of hereditary human myopathies.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02337773
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  • 8
    Electronic Resource
    Electronic Resource
    Increased acetylcholine sensitivity in Duchenne muscular dystrophy myotubes (1991)
    Springer
    Neurological sciences 12 (1991), S. 181-185 
    Details
    ISSN: 1590-3478
    Keywords: Duchenne muscular dystrophy ; ACh sensitivity ; ACh ionophoresis ; human myotubes ; human muscle culture
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Sommario Le colture muscolari sono state ricavate da esplanti muscolari di 6 pazienti affetti da distrofia muscolare di Duchenne e 9 soggetti di controllo. Gli studi elettrofisiologici sono stati effettuati dopo 3–4 settimane di coltura, quando si erano formati molti miotubi. Si è usata la tecnica della registrazione intracellulare del potenziale della cellula per mezzo di un microelettrodo; l'Acetilcolina è stata applicata ai miotubi per elettroforesi. I miotubi ottenuti dai pazienti affetti da distrofia muscolare di Duchenne hanno mostrato una maggiore sensibilità all'acetilcolina rispetto al controllo
    Notes: Abstract Monolayer cultures were established from explants of muscle obtained from 6 patients with Duchenne muscular dystrophy (DMD) and 9 controls. Electrophysiological studies were made after 3–4 weeks in vitro, when many myotubes had formed. An intracellular electrode was used to record cell membrane potential, and acetylcholine was applied by ionophoresis. The myotubes grown from Duchenne muscle showed greater acetylcholine sensitivity than controls.
    Type of Medium: Electronic Resource
    URL: http://dx.doi.org/10.1007/BF02337031
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