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.

Information der Deutschen Nationalbibliothek Die Deutsche Nationalbibliothek verzeichnet diese Publikation in der Deutschen Nationalbibliografie; detaillierte bibliografische Daten sind im Internet über http://dnb.d-nb.de abrufbar.

A 32-year-old female patient is described who suffered from common symptoms such as Raynaud's phenomenon and swollen fingers, high titers of antibodies to U1RNP, SLE-like findings, scleroderma-like findings and polymyositis-like findings. A diagnosis of mixed connective tissue disease (Sharp-syndrome) was established. In addition, the patient had antibodies against cardiolipin, thrombocytopenia, recurrent fetal loss and a history of deep venous thrombosis of her left leg which is typical for an antiphospholipid syndrome. The symptoms dry eyes and dry mouth pointed at secondary Sjögren's syndrome. The diagnosis of these disease entities and the therapeutic regimens are described and discussed.

The ophthalmologist is able to confirm the clinical diagnosis by demonstrating the telangiectasia. Due to the increased disposition to malignant neoplasms regular check-ups should be performed.

Symptomatic myoclonus syndromes can be caused by a broad range of etiological factors. We report the case of a 40-year-old woman who showed spontaneous and continuous myoclonus with predominance distally and in the arms as the only neurological symptom. CSF evaluation revealed acute neurosyphilis. Six months after antibiotic treatment, the movement disorder had disappeared.

No abstract

No abstract

We describe an algorithm that permits representative fascicle selection for sample acquisition from the entire cross‐section of a nerve. We calculate the number of fascicles necessary for the acquisition of a given sample volume of nerve fibres from the image magnification, determine the scheme of intrafascicular sampling, and measure the (estimated) nerve fibre density. We start by storing the positions of all fascicles as coordinates of the microscope motor stage. We then recruit the needed fascicles from the file by calling them up out of the storage order with a constant interval, using the quotient of the total number of fascicles and the number of fascicles necessary to obtain the sample size for this purpose. The results obtained on the analysis of 40 specimens of sural and tibial nerves by means of the image analysis system IBAS are reported.