Duchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants.

Autor:	Okazaki, Tetsuya, Matsuura, Kaori, Kasagi, Noriko, Adachi, Kaori, Kai, Masachika, Okubo, Mariko, Nishino, Ichizo, Nanba, Eiji, Maegaki, Yoshihiro
Předmět:	DUCHENNE muscular dystrophy PHENOTYPES NEUROMUSCULAR disease diagnosis RECESSIVE genes HUMAN genetic variation
Zdroj:	Human Genome Variation; 4/20/2020, Vol. 7 Issue 1, p1-4, 4p
Abstrakt:	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. [ABSTRACT FROM AUTHOR]
Databáze:	Complementary Index
Externí odkaz:	Zobrazit plný text záznamu Full text from SpringerLink