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Cranial Nerve Involvement With Diplopia as Presenting Feature of CMT1H Caused by Recurring FBLN5 Variant
Georgios Koutsis1, Zoi Kontogeorgiou1, Charalampos Tzempetzis1
1Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital, Medical School, National and Kapodistrian Universtiy of Athens, Athens, Greece.
This case report details Charcot-Marie-Tooth type 1H (CMT1H) in a patient with cranial nerve involvement, a previously unreported symptom. This finding expands the known clinical presentation of FBLN5-related CMT1H.
Area of Science:
- Neurology
- Genetics
- Demyelinating Neuropathies
Background:
- Charcot-Marie-Tooth type 1H (CMT1H) is a rare, autosomal dominant demyelinating neuropathy.
- It is caused by variants in the FBLN5 gene.
- Symptomatic cranial nerve involvement has not been previously documented in CMT1H.
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