Novel pathogenic ALG2 mutation causing congenital myasthenic syndrome: A case report
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DOI: 10.1016/j.nmd.2021.11.012
Abstract: ALG2 mutations are extremely rare causes of congenital myasthenic syndromes (CMS). The clinical phenotype and treatment response is therefore not well described. We present the case of a baby who immediately after birth presented with… read more here.
Keywords: alg2 mutation; congenital myasthenic; pathogenic alg2; case ... See more keywords