Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency (LSMFLAD)

Alias:

Lsmflad

Myopathy, Lipid Storage, Due to Flavin Adenine Dinucleotide Synthetase Deficiency

Lipid Storage Myopathy Due to Flad1 Deficiency

Myopathy with Abnormal Lipid Metabolism

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency, is also known as lsmflad. An important gene associated with Lipid Storage Myopathy Due to Flavin Adenine Dinucleotide Synthetase Deficiency is FLAD1 (Flavin Adenine Dinucleotide Synthetase 1). Affiliated tissues include skeletal muscle, and related phenotypes are scoliosis and elevated circulating creatine kinase concentration

Related ID：

MALACARDS：LPD042

OMIM：255100

MESH：D009136