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New compound heterozygous variants of the cholinergic receptor nicotinic delta subunit gene in a Chinese male with congenital myasthenic syndrome: A case report.

Abstract Congenital myasthenic syndromes (CMS) are a group of genetic disorders that stem mostly from molecular defects in nicotinic acetylcholine receptors (AChRs). Defects in the cholinergic receptor nicotinic delta subunit (CHRND) gene can cause a series of myasthenic syndromes. Here, we report 2 new compound heterozygous variants of the CHRND gene in a Chinese male with CMS.
PMID
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Authors

Mayor MeshTerms
Keywords
Journal Title medicine
Publication Year Start




PMID- 29390429
OWN - NLM
STAT- MEDLINE
DCOM- 20180213
LR  - 20180213
IS  - 1536-5964 (Electronic)
IS  - 0025-7974 (Linking)
VI  - 96
IP  - 51
DP  - 2017 Dec
TI  - New compound heterozygous variants of the cholinergic receptor nicotinic delta
      subunit gene in a Chinese male with congenital myasthenic syndrome: A case
      report.
PG  - e8981
LID - 10.1097/MD.0000000000008981 [doi]
AB  - INTRODUCTION: Congenital myasthenic syndromes (CMS) are a group of genetic
      disorders that stem mostly from molecular defects in nicotinic acetylcholine
      receptors (AChRs). Defects in the cholinergic receptor nicotinic delta subunit
      (CHRND) gene can cause a series of myasthenic syndromes. Here, we report 2 new
      compound heterozygous variants of the CHRND gene in a Chinese male with CMS. CASE
      PRESENTATION: A 43-year-old Chinese male presented with progressive muscle
      weakness, difficulty chewing, and an inability to lift his head from the time he 
      was 8 years old. He was treated with pyridostigmine, which was partially
      effective. Two weeks prior, he was hospitalized for dyspnea. Upon examination, he
      was unable to drum his cheeks and exhibited fatigable muscle weakness and facial 
      muscle atrophy. Sequencing of his exome revealed 2 previously unreported
      mutations in CHRND, c.59G>A (exon2) and c.423G>C (exon5). CONCLUSIONS: We
      identified a new mutational site that contributes to the onset of CMS.
CI  - Copyright (c) 2017 The Authors. Published by Wolters Kluwer Health, Inc. All
      rights reserved.
FAU - Feng, Huiru
AU  - Feng H
AD  - Department of Neurology, West China Hospital, Sichuan University, Chengdu, China.
FAU - Zhou, Hongyu
AU  - Zhou H
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Medicine (Baltimore)
JT  - Medicine
JID - 2985248R
RN  - 0 (CHRND protein, human)
RN  - 0 (Receptors, Cholinergic)
SB  - AIM
SB  - IM
MH  - Adult
MH  - Asian Continental Ancestry Group
MH  - Diagnosis, Differential
MH  - Humans
MH  - Male
MH  - Muscle Weakness/etiology
MH  - Myasthenic Syndromes, Congenital/complications/*diagnosis/genetics
MH  - Receptors, Cholinergic/*genetics
PMC - PMC5758131
EDAT- 2018/02/03 06:00
MHDA- 2018/02/14 06:00
CRDT- 2018/02/03 06:00
PHST- 2018/02/03 06:00 [entrez]
PHST- 2018/02/03 06:00 [pubmed]
PHST- 2018/02/14 06:00 [medline]
AID - 10.1097/MD.0000000000008981 [doi]
AID - 00005792-201712220-00016 [pii]
PST - ppublish
SO  - Medicine (Baltimore). 2017 Dec;96(51):e8981. doi: 10.1097/MD.0000000000008981.