Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochromeb gene

2003 ◽  
Vol 28 (4) ◽  
pp. 508-511 ◽  
Author(s):  
Claudio Bruno ◽  
Filippo M. Santorelli ◽  
Stefania Assereto ◽  
Emmanuel Tonoli ◽  
Alessandra Tessa ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Exercise Intolerance ◽  
Progressive Exercise ◽  
Cytochromeb Gene

A nonsense mutation (G15059A) in the cytochromeb gene in a patient with exercise intolerance and myoglobinuria

1999 ◽  
Vol 45 (1) ◽  
pp. 127-130 ◽  
Author(s):  
A. L. Andreu ◽  
C. Bruno ◽  
T. C. Dunne ◽  
K. Tanji ◽  
S. Shanske ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Exercise Intolerance ◽  
Cytochromeb Gene

Chronic cardiac tamponade in a cat caused by an intrapericardial biliary cyst

2010 ◽  
Vol 12 (4) ◽  
pp. 338-340 ◽  
Author(s):  
Sarah M. Scruggs ◽  
Janice M. Bright
Keyword(s):  
Cardiac Tamponade ◽  
Clinical Signs ◽  
Exercise Intolerance ◽  
Two Dimensional ◽  
Percutaneous Aspiration ◽  
Biliary Cyst ◽  
Progressive Exercise ◽  
History Of ◽  
Dimensional Echocardiography ◽  
Two Dimensional Echocardiography

A 1-year-old domestic longhair cat presented to our hospital with a 4-month history of progressive exercise intolerance and coughing. Two-dimensional echocardiography confirmed the presence of an intrapericardial cyst and cardiac tamponade. Tamponade was relieved via percutaneous aspiration of the cyst. The cyst was surgically excised 4 days later, and histopathology was consistent with a biliary cyst. The cat's clinical signs completely resolved following surgery.

Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene

1999 ◽  
Vol 45 (6) ◽  
pp. 820-823 ◽  
Author(s):  
A. L. Andreu ◽  
K. Tanji ◽  
C. Bruno ◽  
G. M. Hadjigeorgiou ◽  
C. M. Sue ◽  
...  
Keyword(s):  
Nonsense Mutation ◽  
Exercise Intolerance

Congenital bilateral laryngeal paralysis in a 10-month-old English springer spaniel

2019 ◽  
Vol 7 (2) ◽  
pp. e000746
Author(s):  
Maria Zurita ◽  
Lara Dempsey
Keyword(s):  
Case Report ◽  
General Anaesthesia ◽  
Old English ◽  
Blood Test ◽  
Exercise Intolerance ◽  
Uneventful Recovery ◽  
Surgical Department ◽  
Laryngeal Paralysis ◽  
First Case ◽  
Progressive Exercise

This report describes a 10-month-old female, English springer spaniel that was referred to the surgical department for investigation of progressive exercise intolerance and stridor. After performing a complete blood test, thorough examination of the airway under a light plane of anaesthesia and CT of the head and thorax under general anaesthesia, bilateral laryngeal paralysis was diagnosed. Due to the dog’s age and the absence of other aetiologies and neurological abnormalities, a diagnosis of congenital laryngeal paralysis was reached.Unilateral arytenoid lateralisation was performed with cricoarytenoid and thyroarytenoid sutures. The dog had an uneventful recovery and was successfully discharged the day following surgery with no recurrent respiratory signs for six months postoperatively (at the time this case report was written). This is the first case report that describes congenital bilateral laryngeal paralysis in an English springer spaniel.

scholarly journals Novel myophosphorylase mutation (p.Arg94Pro) with progressive exercise intolerance

2018 ◽  
Vol 6 (3) ◽  
pp. 499-501
Author(s):  
Maryam Nabavi Nouri ◽  
Anne-Marie Lamhonwah ◽  
Ingrid Tein
Keyword(s):  
Exercise Intolerance ◽  
Progressive Exercise

A novel gly290asp mitochondrial cytochromebmutation linked to a complex III deficiency in progressive exercise intolerance

1996 ◽  
Vol 10 (5) ◽  
pp. 389-391 ◽  
Author(s):  
R. Dumoulin ◽  
I. Sagnol ◽  
T. Ferlin ◽  
D. Bozon ◽  
G. Stepien ◽  
...  
Keyword(s):  
Complex Iii ◽  
Exercise Intolerance ◽  
Progressive Exercise

Decreased expression o ubiquinol-cytochrome c reductase subunits in patients exhibiting mitochondrial myopathy with progressive exercise intolerance

1993 ◽  
Vol 3 (5-6) ◽  
pp. 599-604 ◽  
Author(s):  
Mohamed Fouad Bouzidi ◽  
Hermann Schägger ◽  
Jean-Marc Collombet ◽  
Henri Carrier ◽  
Frédéric Flocard ◽  
...  
Keyword(s):  
Cytochrome C ◽  
Mitochondrial Myopathy ◽  
Exercise Intolerance ◽  
Cytochrome C Reductase ◽  
Progressive Exercise

Ataluren: Clinical Trial Results in Nonsense Mutation Duchenne Muscular Dystrophy (nmDMD)

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
U. Schara ◽  
C. McDonald ◽  
K. Bushby ◽  
M. Tulinius ◽  
R. Finkel ◽  
...  
Keyword(s):  
Clinical Trial ◽  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Nonsense Mutation ◽  
Clinical Trial Results
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