Congenital muscular dystrophy in a dog with a LAMA2 gene deletion.
Congenital muscular dystrophy in a dog with a LAMA2 gene deletion.
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DOI：
10.1111/jvim.16330
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发表时间：
2022-01
影响因子：
2.6
通讯作者：
Mickelson JR
中科院分区：
文献类型：
--
作者：
Shelton GD;Minor KM;Thomovsky S;Guo LT;Friedenberg SG;Cullen JN;Mickelson JR
一只2岁已绝育的雌性犬，有慢性短步幅步态和无法完全张开下颌的病史。该犬在几个月大时从动物保护协会被领养后就出现了临床症状。血清肌酸激酶活性异常高。进行了神经学检查、肌电图检查、免疫荧光染色的肌肉活检以及全基因组测序（WGS）。在肌肉活检中从组织学上确定了营养不良表型，通过免疫荧光染色证实了层粘连蛋白α2蛋白缺乏，通过对WGS数据的分析确定了LAMA2基因的缺失。确诊为与LAMA2基因的一个致病变异相关的先天性肌营养不良。
A 2‐year‐old female spayed dog was presented with a chronic history of short‐strided gait and inability to completely open the jaw. Clinical signs were present since the dog was adopted from a humane society at a few months of age. Serum creatine kinase activity was abnormally high. Neurological examination, electromyography, muscle biopsies with immunofluorescent staining, and whole genome sequencing (WGS) were performed. A dystrophic phenotype was identified histologically in muscle biopsies, deficiency of laminin α2 protein was confirmed by immunofluorescent staining, and a deletion in the LAMA2 gene was identified by analysis of the WGS data. Congenital muscular dystrophy associated with a disease variant in LAMA2 was identified.
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DOI：
10.1073/pnas.85.5.1544
发表时间：
1988-03-01
影响因子：
11.1
作者：
LEIVO, I;ENGVALL, E
通讯作者：
ENGVALL, E
影响因子：
4.8
作者：
Straub, V;Campbell, KP
通讯作者：
Campbell, KP
DOI：
10.1016/j.nmd.2021.07.016
发表时间：
2021-11
期刊：
Neuromuscular disorders : NMD
影响因子：
--
作者：
Shelton GD;Minor KM;Guo LT;Friedenberg SG;Cullen JN;Hord JM;Venzke D;Anderson ME;Devereaux M;Prouty SJ;Handelman C;Campbell KP;Mickelson JR
通讯作者：
Mickelson JR
影响因子：
5.3
作者：
Meurs, Kathryn M.;Friedenberg, Steven G.;Granzier, Henk
通讯作者：
Granzier, Henk
DOI：
10.1073/pnas.41.12.1079
发表时间：
1955-01-01
影响因子：
11.1
作者：
MICHELSON, AM;RUSSELL, ES;HARMAN, PJ
通讯作者：
HARMAN, PJ