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OrphanAnesthesia
J. Prottengeier, K. Shammas, J. Smith

Collagen VI-related myopathy

Collagen VI-related myopathy

Schlüsselwörter Collagen VI-related myopathy ICD 10: G71; Spectrum of phenotypes: Mild: Bethlem myopathy / benign congenital muscular dystrophy Intermediate: Limb-girdle muscular dystrophy; myosclerosis myopathy Severe: Ullrich myopathy / Congenital atonic sclerotic muscular dystrophy
Keywords Collagen VI-related myopathy ICD 10: G71; Spectrum of phenotypes: Mild: Bethlem myopathy / benign congenital muscular dystrophy Intermediate: Limb-girdle muscular dystrophy; myosclerosis myopathy Severe: Ullrich myopathy / Congenital atonic sclerotic muscular dystrophy
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Summary

First described by Ullrich in 1930 and Bethlem in 1976, respectively [1]. Caused by mutations in any of the 3 genes which code for collagen type VI synthesis, COL6A1, COL6A2 and COL6A3 [2]. Collagen VI is a major contributor to the stability of the extracellular matrix. The remaining function of collagen VI determines the clinical severity of the disorder [3,4]. Considered different entities in the past, Bethlem and Ullrich myopathy are now considered extremes in the spectrum of collagen VI myopathy. Both inheritance (mostly autosomal recessive) and de-novo mutations (mostly autosomal dominant) are possible, the latter is more common. Combined prevalence is estimated at approximately 1 in 100,000 births (varying data for subtypes). Diagnosis relies on muscle biopsy and molecular genetic testing. There exists no causative treatment.

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