Skin damage in a patient with lipid storage myopathy with a novel ETFDH mutation responsive to riboflavin.

Background

Recessive mutations in ETFDH gene have been associated with Multiple Acyl-CoA dehydrogenase deficiency (MADD). The late-onset MADD is often muscle involved, presenting with lipid storage myopathy (LSM). The symptoms of LSM were heterogeneous and definite diagnosis of this disease depends on the pathology and gene test.

Methods

Neurological examination, muscle biopsy, and MRI examinations were performed in a patient with a novel missense ETFDH mutation.

Results

We describe a patient with lipid storage myopathy complicated with skin damage. In addition, the next generation revealed a novel missense mutation (c.970G > T, p.Val324Leu) in exon 8, which was predicted to be a disease-causing mutation by Mutation-taster, and destroy the function of the protein by Sift.

Conclusion

These findings expand the known mutational spectrum of ETFDH and phenotype of MADD.