Bethlem myopathy demonstrated in three generations of a rural West Virginia family carrying an autosomal dominant COL6A3 mutation
Mutations in the genes that code for type VI collagen can lead to what are known as the collagenopathies (collagen VI myopathies), such as Bethlem myopathy (BTHLM1), which affect structural tissues like muscles and tendons. We present the case of a young female and her two relatives, who were discov...
| Main Authors: | , |
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| Format: | Article |
| Language: | English |
| Published: |
Marshall University
2021-07-01
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| Series: | Marshall Journal of Medicine |
| Subjects: |