New POLG mutation causing autosomal dominant PEO, proximal and distal myopathy and respiratory failure

Gonzalez Mera L.; Carreno-Gago L.; Pellise A.; Paramonov I.; Garcia-Arumi E.; Olive M.

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New POLG mutation causing autosomal dominant PEO, proximal and distal myopathy and respiratory failure

机译：新的脊髓突变导致常染色体显性培养，近端和远端肌病和呼吸衰竭

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来源
《Neuromuscular disorders: NMD》 |2019年第1期|共2页
作者
Gonzalez Mera L.; Carreno-Gago L.; Pellise A.; Paramonov I.; Garcia-Arumi E.; Olive M.;
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作者单位

IDIBELL Hosp Bellvitge Barcelona Spain;

UAB CIBERER HVall Hebron VHIR Barcelona Spain;

Hosp Univ Joan XXIII Tarragona Spain;

Hosp Valle De Hebron Barcelona Spain;

UAB CIBERER HVall Hebron VHIR Barcelona Spain;

IDIBELL Hosp Bellvitge Barcelona Spain;

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正文语种 eng
中图分类神经病学;
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1. New POLG mutation causing autosomal dominant PEO, proximal and distal myopathy and respiratory failure [J] . Gonzalez Mera L., Carreno-Gago L., Pellise A., Neuromuscular disorders: NMD . 2019,第Suppla1期

机译：新的脊髓突变导致常染色体显性培养，近端和远端肌病和呼吸衰竭
2. A second locus for autosomal dominant myopathy with proximal muscle weakness and early respiratory muscle involvement: a likely chromosomal locus on 2q21. [J] . Xiang F, Nicolao P, Chapon F, Neuromuscular disorders: NMD . 1999,第5期

机译：常染色体显性肌病的第二个位点，伴有近端肌肉无力和早期呼吸肌受累：2q21可能是染色体位点。
3. Kelch-like homologue 9 mutation is associated with an early onset autosomal dominant distal myopathy (vol 133, pg 2123, 2010) [J] . Cirak Sebahattin, von Deimling Florian, Sachdev Shrikesh, Brain: A journal of neurology . 2020,第Pta6期

机译：Kelch样同源物9突变与早期发作常染色体显性远端肌病有关（Vol 133，PG 2123，2010）
4. Sarcomere protein gene mutations and inherited heart disease: a beta-cardiac myosin heavy chain mutation causing endocardial fibroelastosis and heart failure [C] . Mitsuhiro Kamisago, Joachim P. Schmitt, Dennis McNamara, Symposium on heart failure: Molecules, mechanisms and therapeutic targets . 2006

机译：Sarcomere蛋白质基因突变和遗传性心脏病：β-心肌肌苷重链突变导致心内膜肌肌瘤和心力衰竭
5. Investigating the pathogenicity of mutations in two ubiquitously expressed housekeeping genes that cause autosomal dominant retinitis pigmentosa. [D] . Spellicy, Catherine Jean. 2009

机译：调查导致常染色体显性遗传性视网膜色素变性的两个普遍表达的管家基因突变的致病性。
6. Dystonia in a Patient with Autosomal‐Dominant Progressive External Ophthalmoplegia Type 1 Caused by Mutation in the POLG Gene [O] . Malco Rossi, Alex Medina Escobar, Martin Radrizzani, 2017

机译：由POLG基因突变引起的1型常染色体显性进行性眼外肌麻痹患者的肌张力障碍
7. Autosomal dominant myopathy with proximal weakness and early respiratory muscle involvement maps to chromosome 2q. [O] . Nicolao, P, Xiang, F, Gunnarsson, L G, 1999

机译：具有近端无力和早期呼吸肌受累的常染色体显性肌病映射到染色体2q。

New POLG mutation causing autosomal dominant PEO, proximal and distal myopathy and respiratory failure

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