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A novel homozygous initiation codon variant associated with infantile alpha‐Bcrystallinopathy in a Chinese family
BACKGROUND: Due to inconsistencies with reported myofibrillar myopathy (MFM), including autosomal dominant inheritance, late onset and a slowly progressive course, the severe, recessively inherited form of CRYAB (alpha‐B crystallin) gene‐related infantile MFM has been suggested. Here, we report an i...
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| Publicado no: | Mol Genet Genomic Med |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6687638/ https://ncbi.nlm.nih.gov/pubmed/31215171 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.825 |
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