X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat.
X-linked myotubular myopathy associated with an MTM1 variant in a Maine coon cat.
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DOI：
10.1111/jvim.16509
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发表时间：
2022-09
影响因子：
2.6
通讯作者：
Jones, Boyd R.
中科院分区：
文献类型：
--
作者：
Kopke, Matthew A.;Diane Shelton, G.;Lyons, Leslie A.;Wall, Meredith J.;Pemberton, Sarah;Gedye, Kristene R.;Owen, Rebecca;Guo, Ling T.;Buckley, Reuben M.;Valencia, Juan A.;Jones, Boyd R.;Jones, Boyd R.
描述一只患有X连锁肌管性肌病的猫的临床病程、诊断和遗传学发现。对一只7个月大的雄性缅因州浣熊进行了步态异常和全身无力进行性恶化的评价。神经定位于神经肌肉系统。脊髓性肌萎缩症（LIX 1）的基因检测结果为阴性。考虑到进展性和疑似长期预后不良，犬主人选择了安乐死。死后获得的骨骼肌组织学显示，有许多圆形萎缩或营养不良纤维，内部核或中央嗜碱性染色。使用由细胞色素C氧化酶和琥珀酸脱氢酶介导的氧化反应，观察到散在的肌纤维具有中央深色染色结构和“环状”外观。考虑到猫的年龄和临床病史，认为最有可能是先天性肌病，中央核和“环状”变化与中枢性或肌管性肌病一致。全基因组测序鉴定了肌管蛋白1（MTM 1）的潜在错义变体，MTM 1是X连锁肌管性肌病的已知候选基因。该病例是首次报告的X-连锁肌管性肌病的猫与MTM 1错义突变。缅因州的浣熊饲养者可能会考虑筛查这种变异，以防止受影响的猫的生产，并从繁殖种群中根除这种变异。
Describe the clinical course and diagnostic and genetic findings in a cat with X‐linked myotubular myopathy. A 7‐month‐old male Maine coon was evaluated for progressively worsening gait abnormalities and generalized weakness. Neurolocalization was to the neuromuscular system. Genetic testing for spinal muscular atrophy (LIX1) was negative. Given the progressive nature and suspected poor long‐term prognosis, the owners elected euthanasia. Histopathology of skeletal muscle obtained post‐mortem disclosed numerous rounded atrophic or hypotrophic fibers with internal nuclei or central basophilic staining. Using oxidative reactions mediated by cytochrome C oxidase and succinic dehydrogenase, scattered myofibers were observed to have central dark staining structures and a “ring‐like” appearance. Given the cat's age and clinical history, a congenital myopathy was considered most likely, with the central nuclei and “ring‐like” changes consistent with either centronuclear or myotubular myopathy. Whole genome sequencing identified an underlying missense variant in myotubularin 1 (MTM1), a known candidate gene for X‐linked myotubular myopathy. This case is the first report of X‐linked myotubular myopathy in a cat with an MTM1 missense mutation. Maine coon cat breeders may consider screening for this variant to prevent production of affected cats and to eradicate the variant from the breeding population.
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DOI：
10.1016/j.nmd.2013.11.003
发表时间：
2014-02
期刊：
Neuromuscular disorders : NMD
影响因子：
--
作者：
North KN;Wang CH;Clarke N;Jungbluth H;Vainzof M;Dowling JJ;Amburgey K;Quijano-Roy S;Beggs AH;Sewry C;Laing NG;Bönnemann CG;International Standard of Care Committee for Congenital Myopathies
通讯作者：
International Standard of Care Committee for Congenital Myopathies
影响因子：
3.7
作者：
Maurer M;Mary J;Guillaud L;Fender M;Pelé M;Bilzer T;Olby N;Penderis J;Shelton GD;Panthier JJ;Thibaud JL;Barthélémy I;Aubin-Houzelstein G;Blot S;Hitte C;Tiret L
通讯作者：
Tiret L
影响因子：
5.8
作者：
Choi, Yongwook;Chan, Agnes P.
通讯作者：
Chan, Agnes P.
影响因子：
4.5
作者：
Boehm, Johann;Vasli, Nasim;Laporte, Jocelyn
通讯作者：
Laporte, Jocelyn
影响因子：
12.4
作者：
Mack, David L.;Poulard, Karine;Childers, Martin K.
通讯作者：
Childers, Martin K.