Published January 1, 2021
| Version v1
Journal article
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Genetic Survey of Autosomal Recessive Peripheral Neuropathy Cases Unravels High Genetic Heterogeneity in a Turkish Cohort
Creators
- 1. Bogazici Univ, Dept Mol Biol & Genet, Istanbul, Turkey
- 2. Istanbul Univ, Istanbul Fac Med, Dept Neurol, Neuromuscular Unit, Istanbul, Turkey
- 3. Istanbul Univ, Istanbul Fac Med, Dept Neurol, Div Child Neurol, Istanbul, Turkey
Description
Background and Objectives Inherited peripheral neuropathies (IPNs) are a group of genetic disorders of the peripheral nervous system in which neuropathy is the only or the most predominant clinical feature. The most common type of IPN is Charcot-Marie-Tooth (CMT) disease. Autosomal recessive CMT (ARCMT) is generally more severe than dominant CMT and its genetic basis is poorly understood due to high clinical and genetic diversity. Here, we report clinical and genetic findings from 56 consanguineous Turkish families initially diagnosed with CMT disease.
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