Research Topics
Species | Michael KottlorsSummaryAffiliation: University Hospital Country: Germany Publications
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Detail Information
Publications
Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locusMichael Kottlors
Division of Neuropediatrics and Muscle Disorders, University Children s Hospital Freiburg, Freiburg, Germany
J Neurol Sci 291:79-85. 2010..The family presented here suggests that a yet-unknown genetic defect can give rise to an autosomal dominant myopathy with Paget's disease but without dementia...
Elevated satellite cell number in Duchenne muscular dystrophyMichael Kottlors
Division of Neuropediatrics and Muscle Disorders, University Children s Hospital Freiburg, Freiburg, Germany
Cell Tissue Res 340:541-8. 2010..The expression of myogenin is correlated neither with fibrosis nor with age. We suggest variable factors influencing the differentiation of satellite cells in DMD...
Facioscapulohumeral muscular dystrophy presenting with isolated axial myopathy and bent spine syndromeMichael Kottlors
Division of Neuropediatrics and Muscle Disorders, University Children s Hospital Freiburg, Freiburg, Germany
Muscle Nerve 42:273-5. 2010..The diagnosis was confirmed by DNA testing, which revealed shortened restriction fragments of the D4Z4 repeat on haplotype A in connection with a positive family history...
