scholarly journals Diverse myopathological features in the congenital myasthenia syndrome with GFPT1 mutation

2022 ◽  
Author(s):  
Kaiyan Jiang ◽  
Yilei Zheng ◽  
Jing Lin ◽  
Xiaorong Wu ◽  
Yanyan Yu ◽  
...  
Keyword(s):  
Congenital Myasthenia

Severe Congenital Myasthenia Gravis of the Presynaptic Type with Choline Acetyltransferase Mutation in a Chinese Infant with Respiratory Failure

Neonatology ◽  
2009 ◽  
Vol 95 (2) ◽  
pp. 183-186 ◽  
Author(s):  
Wai L. Yeung ◽  
Ching W. Lam ◽  
Lai W.E. Fung ◽  
Kam L.E. Hon ◽  
Pak C. Ng
Keyword(s):  
Respiratory Failure ◽  
Myasthenia Gravis ◽  
Choline Acetyltransferase ◽  
Congenital Myasthenia

scholarly journals Mechanisms of Congenital Myasthenia Caused by Three Mutations in the COLQ Gene

2021 ◽  
Vol 9 ◽  
Author(s):  
Xiaona Luo ◽  
Chunmei Wang ◽  
Longlong Lin ◽  
Fang Yuan ◽  
Simei Wang ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Neuromuscular Junctions ◽  
Three Dimensional ◽  
Missense Variant ◽  
Homozygous Deletion ◽  
Dimensional Structure ◽  
Compound Heterozygous ◽  
Splicing Mutation ◽  
Gene Encoding ◽  
Congenital Myasthenia

The gene encoding collagen like tail subunit of asymmetric acetylcholinesterase (COLQ) is responsible for the transcription of three strands of collagen of acetylcholinesterase, which is attached to the endplate of neuromuscular junctions. Mutations in the COLQ gene are inherited in an autosomal-recessive manner and can lead to type V congenital myasthenia syndrome (CMS), which manifests as decreased muscle strength at birth or shortly after birth, respiratory failure, restricted eye movements, drooping of eyelids, and difficulty swallowing. Here we reported three variants within COLQ in two unrelated children with CMS. An intronic variant (c.393+1G>A) and a novel missense variant (p.Q381P) were identified as compound heterozygous in a 13-month-old boy, with the parents being carriers of each. An intragenic deletion including exons 14 and 15 was found in a homozygous state in a 12-year-old boy. We studied the relative expression of the COLQ and AChE gene in the probands' families, performed three-dimensional protein structural analysis, and analyzed the conservation of the missense mutation c.1142A>C (p.Q381P). The splicing mutation c.393+1G>A was found to affect the normal splicing of COLQ exon 5, resulting in a 27-bp deletion. The missense mutation c.1142A>C (p.Q381P) was located in a conserved position in different species. We found that homozygous deletion of COLQ exons 14–15 resulted in a 241-bp deletion, which decreased the number of amino acids and caused a frameshift translation. COLQ expression was significantly lower in the probands than in the probands' parents and siblings, while AChE expression was significantly higher. Moreover, the mutations were found to cause significant differences in the predicted three-dimensional structure of the protein. The splicing mutation c.393+1G>A, missense mutation c.1A>C (p.Q381P), and COLQ exon 14–15 deletion could cause CMS.

CHRNB1 ‐associated congenital myasthenia syndrome: Expanding the clinical spectrum

2020 ◽  
Author(s):  
Amanda S. Freed ◽  
Anisha C. Schwarz ◽  
Brianna K. Brei ◽  
Sarah V. Clowes Candadai ◽  
Jenny Thies ◽  
...  
Keyword(s):  
Clinical Spectrum ◽  
Congenital Myasthenia

P2-23-02. A case of congenital myasthenia with false positive anti-AChR antibody

2019 ◽  
Vol 130 (10) ◽  
pp. e224
Author(s):  
Chee Geap Tay ◽  
Chin Seng Gan ◽  
Anna Marie Nathan ◽  
Masita Arip ◽  
Chee Ming The ◽  
...  
Keyword(s):  
False Positive ◽  
Achr Antibody ◽  
Congenital Myasthenia

CONGENITAL MYASTHENIA ASSOCIATED WITH FACIAL MALFORMATIONS IN IRAQI AND IRANIAN JEWS

Brain ◽  
1990 ◽  
Vol 113 (5) ◽  
pp. 1291-1306 ◽  
Author(s):  
YOCHANAN GOLDHAMMER ◽  
ILAN BLATT ◽  
MENACHEM SADEH ◽  
RICHARD M. GOODMAN
Keyword(s):  
Congenital Myasthenia

FAST CHANNEL CONGENITAL MYASTHENIA: REVIEW OF 12 CASES AND TREATMENT CHALLENGES

2012 ◽  
Vol 83 (Suppl 2) ◽  
pp. A23.1-A23
Author(s):  
S Finlayson ◽  
R Webster ◽  
D Beeson ◽  
S Jayawant ◽  
S Robb ◽  
...  
Keyword(s):  
Congenital Myasthenia
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