Title Familial Bethlem myopathy in a pediatric patient: a case report /
Authors Kemežytė, Giedrė
DOI 10.15388/Proceedings.2024.45
eISBN 9786090710494
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Is Part of International student conference on pediatrics 2024, April 20th : abstract book.. Vilnius : Vilnius University Press, 2024. p. 17.. eISBN 9786090710494
Keywords [eng] Bethlem myopathy ; collagen type VI-related myopathy ; COL6A2 gene ; joint contractures ; proximal muscle weakness.
Published Vilnius : Vilnius University Press, 2024
Type Conference paper
Language English
Publication date 2024
CC license CC license description