| Literature DB >> 33419982 |
Tetsuya Okazaki1, Kaori Matsuura2, Noriko Kasagi2, Kaori Adachi3, Masachika Kai4, Mariko Okubo5, Ichizo Nishino5, Eiji Nanba2,6, Yoshihiro Maegaki2,7.
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.Year: 2020 PMID： 33419982 DOI： 10.1038/s41439-020-0099-x
Source DB: PubMed Journal: Hum Genome Var ISSN： 2054-345X