During the past five years many patients suffering from congenital myasthenic syndromes (CMS) have been identified worldwide and novel causative genes and mutations have been discovered. The disease genes now include those encoding each subunit of the acetylcholine receptor (AChR), the ColQ part of acetylcholinesterase (ACNE), choline acetyltransferase, Na(v)1.4, MuSK, and Dok-7. Moreover, emerging genotype-phenotype correlations are providing clues for targeted mutation analysis. This review focuses on the recent observations in selected CMS.
机构:
Mayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USAMayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USA
Shen, Xin-Ming
;
Fukuda, Taku
论文数: 0引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USAMayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USA
Fukuda, Taku
;
Ohno, Kinji
论文数: 0引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USAMayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USA
Ohno, Kinji
;
Sine, Steven M.
论文数: 0引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Physiol & Biomed Engn, Receptor Biol Lab, Rochester, MI USA
Mayo Clin, Dept Neurol, Rochester, MI USAMayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USA
Sine, Steven M.
;
Engel, Andrew G.
论文数: 0引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USAMayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USA
机构:
Mayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USAMayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USA
Shen, Xin-Ming
;
Fukuda, Taku
论文数: 0引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USAMayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USA
Fukuda, Taku
;
Ohno, Kinji
论文数: 0引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USAMayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USA
Ohno, Kinji
;
Sine, Steven M.
论文数: 0引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Physiol & Biomed Engn, Receptor Biol Lab, Rochester, MI USA
Mayo Clin, Dept Neurol, Rochester, MI USAMayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USA
Sine, Steven M.
;
Engel, Andrew G.
论文数: 0引用数: 0
h-index: 0
机构:
Mayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USAMayo Clin, Dept Neurol, Muscle Res Lab, Rochester, MN 55905 USA