1.
Prenat Diagn
; 44(8): 996-998, 2024 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38666792
RESUMO
We present a case of fetal akinesia deformation sequence due to nemaline myopathy (NM). In addition to the muscle manifestations, prenatal observations included an enlarged subarachnoid space and delayed cortical development. Trio whole-exome sequencing revealed a de novo novel pathogenic variant in the ACTA1 gene, which encodes skeletal muscle alpha-actin. Our findings suggest that brain abnormalities can occur prenatally in NM and support the potential role of skeletal muscle alpha-actin in the central nervous system.