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Article

A novel homozygous initiation codon variant associated with infantile alpha‐Bcrystallinopathy in a Chinese family

18 Jun 2019

Abstract excerpt

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 infant in a Chinese family with fatal neonatal-onset hypertonic MFM with a novel CRYAB homozygous variant (c.3G > A...

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PMID: 31215171
DOI: 10.1002/mgg3.825

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