A novel compound heterozygous variant of <i>ECHS1</i> identified in a Japanese patient with Leigh syndrome.

A novel compound heterozygous variant of ECHS1 identified in a Japanese patient with Leigh syndrome.

Uchino, Shumpei; Iida, Aritoshi; Sato, Atsushi; Ishikawa, Keiko; Mimaki, Masakazu; Nishino, Ichizo; Goto, Yu-Ichi.

Afiliação

Uchino S; 1Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan.
Iida A; 2Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan.
Sato A; 3Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Ishikawa K; 4Medical Genome Center, NCNP, Tokyo, Japan.
Mimaki M; 3Department of Pediatrics, Graduate School of Medicine, The University of Tokyo, Tokyo, Japan.
Nishino I; 4Medical Genome Center, NCNP, Tokyo, Japan.
Goto YI; 2Department of Pediatrics, Teikyo University School of Medicine, Tokyo, Japan.

Hum Genome Var ; 6: 19, 2019.

Article em En | MEDLINE | ID: mdl-31016024