Confounding clinical presentation and different disease progression in CMT4B1
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DOI: 10.1016/j.nmd.2020.05.003
Abstract: We report seven Charcot-Marie-Tooth 4B1 (CMT4B1) patients from four families with distinctive features, presenting with severe distal weakness and cranial nerve involvement. Patient from family 1 presented with congenital varus foot deformity, progressive distal and… read more here.
Keywords: confounding clinical; cmt4b1; family; different disease ... See more keywords