Page last updated: 2024-11-08

alanine and Congenital Myasthenia

alanine has been researched along with Congenital Myasthenia in 1 studies

Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
alanine : An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2.

Research Excerpts

ExcerptRelevanceReference
"We identified two new cases of congenital myasthenic syndromes with endplate acetylcholinesterase deficiency."1.32Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency. ( Eymard, B; Fardeau, M; Hantaï, D; Ishigaki, K; Koenig, J; Krejci, E; Leroy, JP; Nicolle, D, 2003)

Research

Studies (1)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (100.00)29.6817
2010's0 (0.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Ishigaki, K1
Nicolle, D1
Krejci, E1
Leroy, JP1
Koenig, J1
Fardeau, M1
Eymard, B1
Hantaï, D1

Other Studies

1 other study available for alanine and Congenital Myasthenia

ArticleYear
Two novel mutations in the COLQ gene cause endplate acetylcholinesterase deficiency.
    Neuromuscular disorders : NMD, 2003, Volume: 13, Issue:3

    Topics: Acetylcholinesterase; Adult; Alanine; Animals; Bungarotoxins; Collagen; DNA Mutational Analysis; Exo

2003