Hypoglycosylation of α-dystroglycan characterizes a subgroup of muscular dystrophies of variable severity, including Fukuyama congenital muscular dystrophy. We found fukutin gene mutations in a 4.5-year-old Italian patient, with reduced α-dystroglycan expression, dystrophic features on muscle biopsy, hypotonia since birth, mild myopathy, but no brain involvement. Mutations in the fukutin gene can be associated with much milder phenotypes than classical Fukuyama congenital muscular dystrophy, and, although rare, can occur in non-Japanese.
- Fukuyama congenital muscular dystrophy
ASJC Scopus subject areas
- Clinical Neurology
- Physiology (medical)
- Cellular and Molecular Neuroscience