A novel FKRP-related muscular dystrophy founder mutation in South African Afrikaner patients with a phenotype suggestive of a dystrophinopathy
Background. Fukutin-related protein (FKRP) muscular dystrophy is an autosomal recessive disorder caused by mutations in the FKRP gene. The condition is often misdiagnosed as a dystrophinopathy. A previously unreported mutation, c.1100T>C in exon 4 of FKRP, had been identified in homozygous form i...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
South African Medical Association
2017-01-01
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| Series: | South African Medical Journal |
| Subjects: |