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Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly
Fukuyama-type congenital muscular dystrophy (FCMD, MIM#253800) is an autosomal recessive disorder characterized by severe muscular dystrophy associated with brain malformations. FCMD is the second most common form of muscular dystrophy after Duchenne muscular dystrophy and one of the most common aut...
Shranjeno v:
| izdano v: | Gene |
|---|---|
| Main Authors: | , , , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
2014
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5226855/ https://ncbi.nlm.nih.gov/pubmed/24530477 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2014.01.070 |
| Oznake: |
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