Novel LAMA2 variants identified in a patient with white matter abnormalities.
Hum Genome Var
; 7: 16, 2020.
Article
em En
| MEDLINE
| ID: mdl-32509318
ABSTRACT
Comprehensive genomic analysis was performed in a patient with mild psychomotor developmental delay, elevated creatine kinase, and white matter abnormalities. The results revealed biallelic pathogenic variants in the gene related to merosin-deficient congenital muscular dystrophy, NM_000426.3(LAMA2)c.1338_1339del [p.Gly447Phefs*7] and c.2749 + 2dup, which consist of compound heterozygous involvement with predicted loss-of-function and splicing abnormalities.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Idioma:
En
Revista:
Hum Genome Var
Ano de publicação:
2020
Tipo de documento:
Article
País de afiliação:
Japão