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

ABSTRACT:

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 (p.Met1?)).

Methods

Muscle biopsy indicated that muscle fibers showed a uniformly small diameter, cell atrophy, and visible focal muscle fiber degeneration and necrosis consistent with myogenic myopathy. We performed the whole exome sequencing of pathogenic genes and identified it as MFM.

Results

The proband presented with profound muscle stiffness, progressive

SUBMITTER: Ma K 

PROVIDER: S-EPMC6687638 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature