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- Title
Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants.
- Authors
Okazaki, Tetsuya; Matsuura, Kaori; Kasagi, Noriko; Adachi, Kaori; Kai, Masachika; Okubo, Mariko; Nishino, Ichizo; Nanba, Eiji; Maegaki, Yoshihiro
- Abstract
A 32-year-old man initially received a diagnosis of Duchenne muscular dystrophy (DMD). Genetic analysis revealed two novel heterozygous FKRP variants: c.169G>A (p.Glu57Lys) and c.692G>A (p.Trp231*). These results indicated that the patient had limb-girdle muscular dystrophy type 2I (LGMD2I) caused by recessive FKRP variants. Patients with LGMD2I and DMD have many overlapping phenotypes. LGMD2I should be considered in patients who have a DMD phenotype but not a DMD pathogenic variant.
- Subjects
DUCHENNE muscular dystrophy; PHENOTYPES; NEUROMUSCULAR disease diagnosis; RECESSIVE genes; HUMAN genetic variation
- Publication
Human Genome Variation, 2020, Vol 7, Issue 1, p1
- ISSN
2054-345X
- Publication type
Article
- DOI
10.1038/s41439-020-0099-x