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

摘要

BackgroundDue 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 (p.Met1?)).