A novel mutation of LRSAM1 in a Chinese family with Charcot‐Marie‐Tooth disease

A novel mutation of LRSAM1 in a Chinese family with Charcot‐Marie‐Tooth disease Charcot‐Marie‐Tooth (CMT) disease is the most common inherited peripheral neuropathy characterized by progressive distal muscle weakness and atrophy with decreased or absent tendon reflexes. Mutations in LRSAM1 have been identified to cause CMT disease type 2P. We report a novel LRSAM1 mutation c.2021‐2024del (p.E674VfsX11) in a Chinese autosomal dominant CMT disease type 2 family. The phenotype was characterized by late onset and mild sensory impairment. Electrophysiological findings showed normal or mildly to moderately reduced motor and sensory nerve conduction velocities in lower and upper limb nerves. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Journal of the Peripheral Nervous System Wiley

A novel mutation of LRSAM1 in a Chinese family with Charcot‐Marie‐Tooth disease

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Publisher
Wiley Subscription Services, Inc., A Wiley Company
Copyright
© 2018 Peripheral Nerve Society
ISSN
1085-9489
eISSN
1529-8027
D.O.I.
10.1111/jns.12247
Publisher site
See Article on Publisher Site

Abstract

Charcot‐Marie‐Tooth (CMT) disease is the most common inherited peripheral neuropathy characterized by progressive distal muscle weakness and atrophy with decreased or absent tendon reflexes. Mutations in LRSAM1 have been identified to cause CMT disease type 2P. We report a novel LRSAM1 mutation c.2021‐2024del (p.E674VfsX11) in a Chinese autosomal dominant CMT disease type 2 family. The phenotype was characterized by late onset and mild sensory impairment. Electrophysiological findings showed normal or mildly to moderately reduced motor and sensory nerve conduction velocities in lower and upper limb nerves.

Journal

Journal of the Peripheral Nervous SystemWiley

Published: Jan 1, 2018

Keywords: ; ; ;

References

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