Work

Congenital muscular dystrophy due to fukutin mutations without ocular symptoms and central nervous system disorders: A case report

Year: 2025

Type: article

Abstract: We report a 22-year-old Japanese man with severe congenital muscular dystrophy without intellectual disability due to a 3-kb retrotransposal insertion and point mutation in the fukutin gene ( FKTN ), classified as congenital muscular dystrophy-dystroglycanopathy without mental retardation (type B4; MDDGB4; OMIM 613152 ). The onset was in infancy, and while he eventually lost his ambulation, he had no intellectual disability. We believe that this patient had the most severe MDDGB4 phenotype not only among surviving patients with FKTN mutations but also among surviving patients with mutations in other α-dystroglycanopathy-related genes. The phenotypes associated with FKTN mutations are not limited to FCMD, ranging from severe to mild in manifestation.

Source: Brain and Development Case Reports

DOI: 10.1016/j.bdcasr.2025.100095

Authors: Hiroko Oiwa, Keiko Ishigaki, Yoshihiko Saito, Yasushi Oya, Ichizo Nishino, Yuji Takahashi

Institutions: National Center of Neurology and Psychiatry, National Center Hospital of Neurology and Psychiatry, Tokyo Women's Medical University Hospital, Tokyo Women's Medical University

Language: English

Topic: Muscle Physiology and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: hybrid

Estimated APC paid: $800