A Novel Frameshift Mutation in Two Siblings with Merosin-deficient Congenital Muscular Dystrophy
We present two siblings with elevated serum creatine kinase concentrations, developmental delay, muscle weakness, and contractures of the lower limbs. Cranial magnetic resonance imaging revealed diffuse white matter hyperintensity in both siblings. In the older sister, muscle biopsy was performed; i...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Galenos Yayinevi
2020-03-01
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| Series: | Haseki Tıp Bülteni |
| Subjects: | |
| Online Access: |
http://www.hasekidergisi.com/archives/archive-detail/article-preview/a-novel-frameshift-mutation-in-two-siblings-with-m/36510
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