Article
Confounding clinical presentation and different disease progression in CMT4B1.
Neuromuscular disorders : NMD - 1 Jul 2020
Guimarães-Costa Raquel, Villar-Quiles Rocio-Nur, Latour Philippe, Sole Guilhem, Husson Isabelle, Lacour Arnaud, Leonard-Louis Sarah, Stojkovic Tanya
Abstract excerpt
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 proximal weakness leading to loss of ambulation at 14 years, bilateral facial palsy and prominent bulbar involvement. In three siblings from family...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.