Article
Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients.
Neuromuscular disorders : NMD - 1 Apr 2020
Mroczek Magdalena, Durmus Hacer, Bijarnia-Mahay Sunita, Töpf Ana, Ghaoui Roula, Bryen Samantha, Duff Jennifer, England Eleina, Cooper Sandra T, MacArthur Daniel G, Straub Volker
Abstract excerpt
Adenylosuccinate synthase (ADSSL1) is a muscle specific enzyme involved in the purine nucleotide cycle and responsible for the conversion of inosine monophosphate to adenosine monophosphate. Since 2016, when mutations in the ADSSL1 gene were first described to be associated with an adult onset distal myopathy, nine patients with compound heterozygous variants in the ADSSL1 gene, all of Korean origin, have been...
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