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  • 1
    Abstract: Inherited deficiency of myophosphorylase leads to glycogen storage disease type V (McArdle's disease). We performed mutation analysis in 9 patients of eight unrelated families from Germany with typical clinical presentation of myophosphorylase deficiency. Beside previously described mutations we identified four novel mutations in the myophosphorylase gene. Four patients were homozygous for a nonsense mutation Arg49Stop that has been reported to be the most common mutation in white patients. Two affected siblings were compound heterozygotes for a novel missense mutation Gly685Arg and the nonsense mutation Arg49Stop. One patient carried a novel nonsense mutation Arg575Stop and a previously identified missense mutation Gly204Ser. In another patient, we identified a novel missense mutation Gln665Glu and a single-base deletion delA in Lys753. One patient of Turkish ancestry carried a newly identified homozygous A-to-G transition (ATG to GTG) abolishing the translation initiation codon of the myophosphorylase gene. These results suggest that Arg49Stop also is the most common genetic error associated with myophosphorylase deficiency in the German population. Our findings further demonstrate molecular heterogeneity of myophosphorylase deficiency among the clinically homogeneous patients we studied.
    Type of Publication: Journal article published
    PubMed ID: 9506549
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  • 2
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Summary For the first time in Germany cases of a “centronuclear myopathy” are described in a 14-year-old boy and his 18-year-old sister. First symptoms in both patients appeared at 4 to 5 years of age with a “sleepy facial expression”, clumsy gait and rapid fatigue. Within few years the disease progressed to generalized muscle weakness and atrophy, ptosis, ophthalmoplegia externa and areflexia. Weakness and atrophy were most pronounced in the distal muscles of the lower extremities. Both patients were free of epilepsy and the EEG recordings were normal. Motor and sensory nerve conduction velocities were normal. Repetitive stimulation of nerves revealed a normal transmission from nerve to muscle. Muscle biopsy showed a type I muscle fibre hypotrophy and a type II muscle fibre hypertrophy in addition to a predominance of type I fibres. Both fibre types showed central nuclei, sometimes appearing as chains in longitudinal sections. In most cells with central nuclei there persists a very small pericentral zone free of myofibrils but with increased activity of oxidative enzymes and phosphorylase. 2–3% of muscle fibres in cross sections showed a decreased or absent enzyme activity in the most peripheral fibre zone. electron microscopy showed evidence of a centrally distinct myofibrillar disintegration. The father of both children had a ptosis at least from the 20th year of age. 5 years later generalized progressive muscle atrophy was recorded. Aged 51 years he died of pneumonia. Though not proved most probably the father suffered from the same disease as the children, pointing to an autosomal dominant inheritance in this family. The disease, according to the literature, seems to be genetically heterogeneous. The clinical picture seems to be independent of the mode of inheritance. Our patients showed a relatively rapid progression of symptoms. Pathogenetically the “centronuclear myopathy” may result from a disturbance of correlated nerve-muscle structures starting during early fetal life.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Description / Table of Contents: Zusammenfassung Es wird über eine neue Form einer recessiv X-chromosomal vererbten progressiven Muskeldystrophie berichtet. Dieses Krankheitsbild wurde bei 17 Kranken in 3 Generationen einer in Niederbayern ansässigen Sippe beobachtet. Der Erkrankungsbeginn lag bei der Mehrzahl der Patienten in der ersten Lebensdekade. Ein Frühsymptom waren fibrotisch bedingte Kontrakturen insbesondere des M. gastrocnemius, der ischioeruralen und paravertebralen Muskeln sowie des M.biceps brachii. Als Folge dieser Veränderungen kam es zu frühzeitigen Bewegungseinschränkungen in den entsprechenden Gelenken. Pseudohypertrophien wurden in keinem Stadium beobachtet. Bei relativ langsamer Progredienz zeigten die auftretenden Paresen und Atrophien eine scapulo-humero-distale Verteilung mit peripher betonten Extensorschwächen. Gehunfähigkeit trat nicht vor der vierten Lebensdekade ein. Die Fertilität war ungestört. Das Todesalter der 9 bisher verstorbenen Kranken lag zwischen 37 und 59 Jahren; alle 9 Patienten verstarben plötzlich, wahrscheinlich als Folge einer schon vorher bestehenden Herzrhythmusstörung. Bei 5 Kranken wurden im Elektrokardiogramm Rhythmusstörungen in Form eines totalen AV-Blockes mit Reizbildung im AV-Knoten oder in tertiären Zentren nachgewiesen. Die elektromyographischen und histologisch-enzymhistochemischen Untersuchungen zeigten einen myopathischen Krankheitsprozeß an. Die motorische und sensible Nervenleitgeschwindigkeit war normal. Die Aktivität der Serum-CPK war bei allen jungen Patienten leicht bis stark erhöht, bei den älteren Patienten war die Aktivität normal. Sichere und mögliche Konduktorinnen zeigten weder klinische Symptome noch Erhöhungen der Serum-CPK. Die klinische Symptomatik und das Verhalten der Serum-CPK erlauben eine sichere differentialdiagnostische Abgrenzung von anderen Myopathien, insbesondere auch von den recessiv X-chromosomal erblichen Muskeldystrophien Typ Duchenne und Typ Becker-Kiener.
    Notes: Summary A kinship living in lower Bavaria (Germany) is described with a distinct type of a recessive X-linked muscular dystrophy. The disease was observed in 3 generations affecting 17 males. Among the earliest manifestations of the disease — usually before the age of 10 — is the shortening of the musculus gastrocnemius and biceps brachii and the hamstrings as well as an increasing fibrosis in neck and paravertebral musculature. The result of these changes are flexion contractures in the elbow, hip and foot and limitation of the ventral flexion of the spine. Other features of the disease include a slow progression rate, muscle weakness and wasting in a scapulo-humeral-distal distribution, involving mainly the extensor muscles, and absence of pseudohypertrophy. The patients were ambulatory at least up to the fourth decade and showed a normal fertility. Hitherto 9 of them died suddenly aged between 37 and 59 years. The deaths most probably were due to cardiac arrest, since in 5 patients looked for there was a partial or complete atrio ventricular block. Electromyography and standard histology as well as enzymehistochemistry indicated a myopathic process. Motor and sensory nerve conduction velocities were normal. In all of the young patients there was an increase in the serum creatine kinase activity, but in older patients the enzyme activity was normal. Definite and possible carriers revealed neither clinically myopathic signs nor raised serum enzyme levels. The clinical picture in combination with the changes in electrocardiogram and in serum creatine kinase activity differentiate this type of myopathy from others, especially from the recessive X-linked types of muscular dystrophy according to Duchenne and Becker-Kiener.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-1076
    Keywords: Subacute sclerosing panencephalitis ; HLA-system ; Interferon treatment
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract This paper describes the very rare occurrence of subacute sclerosing panencephalitis (SSPE) in two siblings: a Turkish boy and his younger sister. The clinical picture was characteristic, and the diagnosis was confirmed in both cases by appropriate laboratory examination. The interval between the occurrence of the first neurological symptoms in the boy, and subsequently in the girl was four years. Study of HLA- and 27 other polymorphic marker-systems did not reveal linkage to one of the systems tested. Therapeutic trials in the girl included intravenous and intraventricular application of a total of 87×106 U human fibroblast interferon (Hu INF-β) over 21 days. However, up to 3 months after the end of interferon administration there were no significant changes in the girl's condition.
    Type of Medium: Electronic Resource
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  • 5
    ISSN: 1433-0474
    Keywords: Schlüsselwörter Myotonische Muskeldystrophie ; Ungewöhnlicher Phänotyp ; Typ-I-Muskelfaseratrophie ; Molekulargenetik ; Key words Myotonic muscular dystrophy ; Unusual phenotype ; Type I fiber atrophy ; Molecular genetics
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Case report. The subjects of this report were a fifteen years old boy and his forty-five years old mother whose clinical symptoms were suspicious of a neuromuscular disorder. The boy suffered from exercise intolerance, weakness of facial muscles, elevated creatinkinase and mental disability. His mother showed exercise intolerance, weakness of facial and limb girdle muscles. Muscle biopsy taken from the left deltoid muscle of the boy at the age of fourteen years shows atrophy of type I muscle fibers without any degenerative and regenerative changes, ringed fibers or sarcoplasmatic masses. Differential diagnosis of atrophy of type I muscle fibers includes myotonic muscular dystrophy but it is not typical without any other changes. The phenotype of these two patients is consistent with a facioscapulohumeral muscular dystrophy but the molecular genetic studies confirmed the diagnosis of the myotonic muscular dystrophy. Conclusions. This family shows the clinical variability of myotonic muscular dystrophy. In this family the histological picture with atrophy of type I muscle fibers was important for the genetic diagnosis of this unusual phenotype.
    Notes: Zusammenfassung Fallbericht. Es wird die Kasuistik eines 15-jährigen Patienten und seiner 45-jährigen Mutter vorgestellt, bei denen eine Belastungsintoleranz, eine Schwäche der Gesichtsmuskulatur und bei der Mutter auch der Schultergürtelmuskulatur sowie eine intermittierend leicht erhöhte Aktivität der Kreatinkinase und mentale Beeinträchtigung des Jungen eine neuromuskuläre Erkrankung nahelegten. Die bei dem Jungen im Alter von 14 Jahren durchgeführte Biopsie aus dem M. deltoideus links zeigte eine isolierte Typ-I-Muskelfaseratrophie ohne dystrophische Veränderungen (zentral liegende Kerne, Nekrose, Phagozytose), Ringbinden, Kernreihen oder sarkoplasmatische Massen. Trotz des ungewöhnlichen Phänotyps bestand aufgrund der Typ-I-Faseratrophie der Verdacht auf eine myotonische Muskeldystrophie. Die molekulargenetische Untersuchung belegte die Diagnose einer myotonischen Muskeldystrophie, die phänotypisch wie eine fazioskapulohumerale Muskeldystrophie imponierte. Schlussfolgerung. Die Familie belegt die klinische Variabilität der myotonischen Muskeldystrophie. In dieser Familie mit ungewöhnlichem Phänotyp war für die molekulargenetische Auflösung der muskelbioptische Befund mit isolierter Typ-I-Muskelfaseratrophie entscheidend.
    Type of Medium: Electronic Resource
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  • 6
    Electronic Resource
    Electronic Resource
    Springer
    Der Anaesthesist 49 (2000), S. 187-195 
    ISSN: 1432-055X
    Keywords: Schlüsselwörter Herzstillstand ; Progressive Muskeldystrophie Typ Duchenne und Becker ; Inhalationsanästhetika ; Succinylcholin ; Rhabdomyolyse ; Key words Duchenne and Becker type muscular dystrophy ; Cardiac arrest ; Succinylcholine ; Volatile anaesthetics ; Rhabdomyolysis
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Abstract During the last 30 years a great number of case reports presented severe anaesthetic complications with sudden cardiac arrest in patients with muscular dystrophies, mostly unsuspected at the time of the event. As succinylcholine was involved in the majority of the intractable incidents with lethal outcome the Food and Drug Administration (FDA) of the United States recommended a warning of the administration of succinylcholine in young children and adolescents in 1992 and an extensive international discussion on the routine use of succinylcholine in paediatric anaesthesia. Epidemiological studies on this issue are rare. We projected an inquiry about the incidence rate and type of severe anaesthetic complications in an utmost large number of patients and families with Duchenne (DMD) and Becker type (BMD) muscular dystrophy. Methods: With the approval of the ethic committee of the university Witten/ Herdecke and informed consent of the participants we investigated all patients and families who were diagnosed, controlled and treated for DMD or BMD as inpatients or outpatients in a „Muscle Centre” since 1983. The questionnaire asked for the number of patients per family, classification of the disease DMD or BMD, number and date of anaesthetics in the patients and eventual complications, anaesthetics and eventual complications in the parents, siblings and relatives and the occurrence of malignant hyperthermia (MH) in the family or relatives. Statistical assessments were done by Fisher’s exact test for stratified 2×2 tables and Zelen’s test for homogeneity of odds ratios. Results: 200 out of 224 questionnaires could be evaluated. The diagnosis was confirmed by molecular genetic and immunohistochemical investigations. In 147 families it turned out to be DMD, in 53 families BMD. The 212 male and 9 female patients in the 200 families were given 444 anaesthetics. Sudden cardiac arrest occurred in 6 patients, all successfully resuscitated. Nine less severe incidents consisted of fever, symptoms of rhabdomyolysis (CK-elevation, dark coloured urine, hyperkalemia) and masseter spasm. The statistical assessment revealed that the occurrence of an event was highly dependent whether the diagnosis of muscular dystrophy was established or not (p〈0.0001, Fisher’s exact test). All six cardiac arrests occurred in the 45 families with undiagnosed disease and no event happened in the 134 families with already known DMD/BMD. There was evidence that the number of anaesthetics without prior establishment of the diagnosis decreased after 1992 (p=0.004, Fisher’s exact test). Conclusions: Our results demonstrate that severe incidents and cardiac arrests occurred only in young children with undiagnosed DMD or BMD who received inhalational agents and succinylcholine. A cardiac arrest in 6 out of 200 families was found much more frequently than in the normal paediatric population (about 1:1000 to 1:3000). The decrease of events after 1992 (warning of the FDA) and disappearance of sudden cardiac arrests in our group of patients might be due to the world wide discussion on routine use of succinylcholine in children or the much earlier establishment of the diagnosis in our population. An early diagnosis of DMD and BMD and the avoidance of the triggering agents succinylcholine and volatile anaesthetics can reduce the risk of severe anaesthetic complications.
    Notes: Zusammenfassung Ziel unseres Projekts war es, Inzidenz und Art schwerer Narkosezwischenfälle bei Patienten mit Muskeldystrophie Typ Duchenne (DMD) oder Becker (BMD) zu erfassen. Die Epidemiologie derartiger Komplikationen ist weitgehend unbekannt, da in der internationalen Literatur überwiegend Einzelfallberichte von Zwischenfällen mit Asystolie und Rhabdomyolyse vorliegen. Methodik: Mit Genehmigung der Ethikkommission erfassten wir mittels einer Fragebogenerhebung bei Patienten und Familien mit DMD oder BMD, die in unserem Muskelzentrum untersucht und behandelt wurden, folgende Daten: Anzahl der Patienten pro Familie, Klassifikation der Erkrankung, Anzahl und Zeitpunkt der Narkosen sowie eventueller Zwischenfälle bei Patienten, Eltern, Geschwistern und Verwandten. Ergebnisse: In den 200 Familien mit 444 Narkosen bei 221 Patienten (212 Jungen und 9 Mädchen) fanden wir 15 schwere Narkosezwischenfälle, sechsmal mit Asystolie. Zum Zeitpunkt des Zwischenfalls waren die Kinder im Durchschnitt 3,7 Jahre alt und die Diagnose in allen Fällen noch nicht bekannt. Nur zwei Zwischenfälle traten nach 1992 auf, also nach der Diskussion um die Routineverwendung von Succinylcholin bei Kindern. Schlußfolgerungen: Eine frühe Diagnosestellung und die strikte Vermeidung von Succinylcholin und Inhalationsanästhetika können bei Patienten mit den Dystrophinopathien DMD und BMD schwere Narkosezwischenfälle mit Asystolie und Rhabdomyolyse verhindern.
    Type of Medium: Electronic Resource
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  • 7
    Electronic Resource
    Electronic Resource
    Copenhagen : International Union of Crystallography (IUCr)
    Applied crystallography online 6 (1973), S. 488-490 
    ISSN: 1600-5767
    Source: Crystallography Journals Online : IUCR Backfile Archive 1948-2001
    Topics: Geosciences , Physics
    Notes: A method for least-squares estimation of the intensities of overlapping diffraction peaks has been successfully applied in structure refinement with powder data. The diffraction peaks are taken to have arbitrary but similar shape, a single set of experimentally determined Fourier coefficients representing this `universal profile' is used, and the abscissa is transformed to take account of angular dependence of the actual profiles. The method has been implemented with a Fortran IV program which also separates α1 and α2 contributions and yields the correlation matrix for the parameters representing the overlapping peaks.
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  • 8
    ISSN: 1600-5767
    Source: Crystallography Journals Online : IUCR Backfile Archive 1948-2001
    Topics: Geosciences , Physics
    Notes: Expressions for the absorption correction function are obtained in the form of integral equations for the case of a flat-plate sample and a position-sensitive detector. It is shown that the absorption correction used for both transmission and reflection geometries with a conventional diffractometer may be applied to a diffractometer equipped with a linear position-sensitive detector. The application of a Savitzky–Golay-type digital filter considerably facilitates the analysis of the data without losing pertinent information.
    Type of Medium: Electronic Resource
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  • 9
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology , Physics
    Type of Medium: Electronic Resource
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  • 10
    Source: ACS Legacy Archives
    Topics: Chemistry and Pharmacology , Physics
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