Myopathy type Bethlemn in a 4-year-old girl

Authors

  • Asia Asenova UHATNP "St.Naum"; Medical university – Sofia
  • I. Aleksandrova UHATNP "St.Naum"; Medical university – Sofia
  • N. Topalov UHATNP "St.Naum"; Medical university – Sofia
  • E. Rodopska UHATNP „St. Naum”
  • A. Shokova UHATNP „St. Naum”
  • I. Bradinova University Obstetrics and Gynecology „Maichin dom”; National Genetic Laboratory; Medical univercity – Sofia
  • V. Bojinova UHATNP „St. Naum”

Keywords:

Bethlem myopathyrrespondence, COL6, myopathic syndrome

Abstract

Bethlem myopathy and Ullrich congenital muscular dystrophy form a spectrum of collagenopathies caused by genetic mutations encoding for any of the three subunits of collagen VI.
Bethlem phenotype is relatively benign and is characterized by proximal dominant myopathy, keloids, contractures, distal hyperextensibility, and follicular hyperkeratosis. We present 4 year old girl with genetically verified with BM, due to mutation of COL6A3 gen with autosomal dominant inheritance. The clinical picture is represented by myoapetic syndrome with limb-girdle muscle weakness, muscle hypotonia, ankle contractures. Eectromyography revealed myopathic features and creatinine kinase was mildly elevated.

References

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Published

31.07.2022

How to Cite

Asenova, A., Aleksandrova, I., Topalov, N., Rodopska, E., Shokova, A., Bradinova, I., & Bojinova, V. (2022). Myopathy type Bethlemn in a 4-year-old girl. Bulgarian Neurology, 23(1), 39–41. Retrieved from http://www.nevrologiabg.com/journal/index.php/neurology/article/view/104