HIGHLIGHTS
- who: Lyndal Henden from the (UNIVERSITY) have published the paper: Identity-by-descent analysis of CMTX3 links three families through a common founder, in the Journal: (JOURNAL) of 13/09/2022
- what: The authors show in CMTX3, where the causal variant was known, IBD mapping successfully confirmed a founder effect.
SUMMARY
X-linked Charcot-Marie-Tooth type 3 (CMTX3) disease is an inherited motor and sensory neuropathy characterised by progressive damage to peripheral nerves. Linkage mapping and whole-genome sequencing of two CMTX3 families (CMT193 from the United Kingdom/New Zealand . . .
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