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

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

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) ca...

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Veröffentlicht in:Human genome variation 2020-04, Vol.7 (1), p.12-12, Article 12
Hauptverfasser: Okazaki, Tetsuya, Matsuura, Kaori, Kasagi, Noriko, Adachi, Kaori, Kai, Masachika, Okubo, Mariko, Nishino, Ichizo, Nanba, Eiji, Maegaki, Yoshihiro
Format: Artikel
Sprache:eng
Schlagworte:
692/420/2489/1512
692/699/375/374
Age
Antibodies
Biomedical and Life Sciences
Biomedicine
Cloning
Data Report
Enzymes
Gene Expression
Gene Function
Gene Therapy
Genetics
Genomes
Genotype & phenotype
Human Genetics
Kinases
Life Sciences
Lymphatic system
Molecular Medicine
Muscular dystrophy
Mutation
Patients
Proteins
Thyroid cancer
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Beschreibung
Zusammenfassung: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.
ISSN:2054-345X
2054-345X
DOI:10.1038/s41439-020-0099-x