MLASA1 is a poly-phenic but not a di-phenic condition
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DOI: 10.1016/j.ymgmr.2019.100538
Abstract: With interest we read the article by Woods et al. about two brothers aged 37y and 35y with MLASA due to the novel variant c.302A>G in PUS1.[1] The two patients presented, in addition to myopathy… read more here.
Keywords: poly phenic; phenic condition; mlasa1; mlasa1 poly ... See more keywords