A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment.
A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment.
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DOI：
10.1111/jvim.16471
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发表时间：
2022-07
影响因子：
2.6
通讯作者：
Olby, Natasha J.
中科院分区：
文献类型：
--
作者：
Woelfel, Christian;Meurs, Kathryn;Friedenberg, Steven;DeBruyne, Nicole;Olby, Natasha J.
对一只10月龄去势雄性家养长毛猫的发作性肢体强直频率增加进行了评价。猫在受惊或兴奋时跌倒，四肢伸展横卧数秒。经检查，猫出现肌肉组织肥大、面部痉挛发作和短步幅、僵硬步态。肌电图（EMG）确定了幅度和频率增加和减少的自发放电，与肌强直放电一致。使用全基因组测序确定了氯电压门控通道1（CLCN 1）基因外显子3和内含子3末端的高影响8个碱基对（bp）缺失。苯妥英治疗开始时为3 mg/kg po q24 h，并导致长期改善。CLCN 1基因中的这种新突变是猫先天性肌强直的原因，我们首次报道了其成功的治疗。
A 10‐month‐old castrated male domestic longhair cat was evaluated for increasing frequency of episodic limb rigidity. The cat presented for falling over and lying recumbent with its limbs in extension for several seconds when startled or excited. Upon examination, the cat had hypertrophied musculature, episodes of facial spasm, and a short‐strided, stiff gait. Electromyography (EMG) identified spontaneous discharges that waxed and waned in amplitude and frequency, consistent with myotonic discharges. A high impact 8‐base pair (bp) deletion across the end of exon 3 and intron 3 of the chloride voltage‐gated channel 1 (CLCN1) gene was identified using whole genome sequencing. Phenytoin treatment was initiated at 3 mg/kg po q24 h and resulted in long‐term improvement. This novel mutation within the CLCN1 gene is a cause of myotonia congenita in cats and we report for the first time its successful treatment.
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影响因子：
4
作者：
van Lunteren E;Moyer M;Cooperrider J;Pollarine J
通讯作者：
Pollarine J
影响因子：
14.5
作者：
Suetterlin, Karen;Matthews, Emma;Sud, Richa;McCall, Samuel;Fialho, Doreen;Burge, James;Jayaseelan, Dipa;Haworth, Andrea;Sweeney, Mary G.;Kullmann, Dimitri M.;Schorge, Stephanie;Hanna, Michael G.;Mannikko, Roope
通讯作者：
Mannikko, Roope
DOI：
10.1016/s0195-5616(03)00079-2
发表时间：
2002-01-01
影响因子：
1.9
作者：
Cuddon, PA
通讯作者：
Cuddon, PA
影响因子：
1.6
作者：
Hickford, FH;Jones, BR;Alley, MR
通讯作者：
Alley, MR
影响因子：
5.2
作者：
Bissay, Veronique;Van Malderen, Sophie C. H.;Van Dooren, Sonia
通讯作者：
Van Dooren, Sonia