Expanding the disease phenotype of ADSSL1-associated myopathy in non-Korean patients
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DOI: 10.1016/j.nmd.2020.02.006
Abstract: 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… read more here.
Keywords: expanding disease; muscle; adssl1 associated; phenotype adssl1 ... See more keywords