Open AccessBethlem myopathy demonstrated in three generations of a rural West Virginia family carrying an autosomal dominant COL6A3 mutation
Author(s) -
Holly Farkosh,
Dominika Lozowska
Publication year - 2021
Publication title -
marshall journal of medicine
Language(s) - English
Resource type - Journals
ISSN - 2379-9536
DOI - 10.33470/2379-9536.1328
Subject(s) - proband , muscle contracture , myopathy , weakness , mutation , muscle weakness , medicine , proximal muscle weakness , genetic testing , genetics , congenital myopathy , collagen vi , pediatrics , gene , pathology , anatomy , biology , muscle biopsy , biopsy