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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: 1433-0407
    Keywords: Schlüsselwörter Psychosomatik des Schwindels ; Phobischer Schwankschwindel ; Angststörungen ; Agoraphobie ; Differentialdiagnose ; Key words Phobic postural vertigo ; Vertigo/dizziness and psychosomatic aspects ; Anxiety disorders ; Agoraphobia ; Differential diagnosis vertigo
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Description / Table of Contents: Summary Due to the results of an interdisciplinary study on patients with vertigo as the chief symptom and on the background of psychodynamic theories concerning anxiety disorders the term of phobic postural vertigo (Brandt & Dieterich 1986) is discussed. It becomes obvious that phobic postural vertigo is a generalizing term which encompasses different forms of psychogenic vertigo. The authors plead for a more differentiated diagnosis and subgroup oriented classification of vertigo caused by psychiatric disorders.
    Notes: Zusammenfassung Aufgrund der Ergebnisse einer mehrjährigen interdisziplinären empirischen Untersuchung an Patienten mit der Leitsymptomatik „Schwindel” zum Thema „Psychosomatische Aspekte des Schwindels” und auf dem Hintergrund psychodynamischer Theorien zu Angsterkrankungen wird der von Brandt und Dieterich 1986 eingeführte Begriff des „phobischen Schwankschwindels” diskutiert. Deutlich wird, daß es sich dabei um eine nicht differenzierende Beschreibung handelt, die unterschiedliche somatoforme (psychogene und psychosomatische) Schwindelzustände umfaßt. Die Autoren plädieren für eine nosologische Subgruppen berücksichtigende Klassifikation psychogen bedingter Schwindelzustände.
    Type of Medium: Electronic Resource
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