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Published in 2021 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-020-01654-8
Abstract: In the past decade, mutations in LRSAM1 were identified as the genetic cause of both dominant and recessive forms of axonal CMT type 2P (CMT2P). Despite demonstrating different inheritance patterns, dominant CMT2P is usually characterized…
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Keywords:
disease;
ring domain;
domain charcot;
lrsam1 ring ... See more keywords