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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Vydáno v:Mol Genet Genomic Med
Hlavní autoři: Ma, Keze, Luo, Dong, Tian, Tian, Li, Ning, He, Xiaoguang, Rao, Chunbao, Zhong, Baimao, Lu, Xiaomei
Médium: Artigo
Jazyk:Inglês
Vydáno: John Wiley and Sons Inc. 2019
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Original Articles
On-line přístup: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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