FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts

Clin Genet. 2018 Dec;94(6):592-593. doi: 10.1111/cge.13452.

Authors

Judit García-Villoria^{1

2}, Begoña De Azua³, Frederic Tort^{1

2}, Signe Mosegaard⁴, Olatz Ugarteburu^{1

2}, Laura Texidó^{1

2}, Blai Morales-Romero¹, Rikke K J Olsen⁴, Antonia Ribes^{1

2}

Affiliations

¹ Secció Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, Barcelona, Spain.
² CIBERER, Barcelona, Spain.
³ Servicio de Pediatría, Hospital Son Llàtzer, Mallorca, Spain.
⁴ Research Unit for Molecular Medicine, Department for Clinical Medicine, Aarhus University, Aarhus, Denmark.

PMID: 30427553
DOI: 10.1111/cge.13452

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Alleles
Amino Acid Substitution
Cataract / diagnosis*
Cataract / genetics*
Fibroblasts / metabolism
Genetic Association Studies
Genetic Predisposition to Disease
Genotype
Humans
Muscular Diseases / diagnosis*
Muscular Diseases / genetics*
Mutation*
Nucleotidyltransferases / genetics*
Scoliosis / diagnosis*
Scoliosis / genetics*

Substances

Nucleotidyltransferases
FMN adenylyltransferase