Search

Your search keyword '"Mohiddin, Saidi A."' showing total 276 results
Start Over Author "Mohiddin, Saidi A."
276 results on '"Mohiddin, Saidi A."'

1. Improved Diagnostic Criteria for Apical Hypertrophic Cardiomyopathy

Author

Hughes, Rebecca K., Shiwani, Hunain, Rosmini, Stefania, Augusto, João B., Burke, Liam, Jiang, Yue, Pierce, Iain, Joy, George, Castelletti, Silvia, Orini, Michele, Kellman, Peter, Xue, Hui, Lopes, Luis R., Mohiddin, Saidi, Treibel, Thomas, Manisty, Charlotte, Captur, Gabriella, Davies, Rhodri, and Moon, James C.

Published
2024
Full Text
View/download PDF

5. Acute Myocarditis Associated With Desmosomal Gene Variants

Author

Ammirati, Enrico, Raimondi, Francesca, Piriou, Nicolas, Sardo Infirri, Loren, Mohiddin, Saidi A., Mazzanti, Andrea, Shenoy, Chetan, Cavallari, Ugo A., Imazio, Massimo, Aquaro, Giovanni Donato, Olivotto, Iacopo, Pedrotti, Patrizia, Sekhri, Neha, Van de Heyning, Caroline M., Broeckx, Glenn, Peretto, Giovanni, Guttmann, Oliver, Dellegrottaglie, Santo, Scatteia, Alessandra, Gentile, Piero, Merlo, Marco, Goldberg, Randal I., Reyentovich, Alex, Sciamanna, Christopher, Klaassen, Sabine, Poller, Wolfgang, Trankle, Cory R., Abbate, Antonio, Keren, Andre, Horowitz-Cederboim, Smadar, Cadrin-Tourigny, Julia, Tadros, Rafik, Annoni, Giuseppe A., Bonoldi, Emanuela, Toquet, Claire, Marteau, Lara, Probst, Vincent, Trochu, Jean Noël, Kissopoulou, Antheia, Grosu, Aurelia, Kukavica, Deni, Trancuccio, Alessandro, Gil, Cristina, Tini, Giacomo, Pedrazzini, Matteo, Torchio, Margherita, Sinagra, Gianfranco, Gimeno, Juan Ramón, Bernasconi, Davide, Valsecchi, Maria Grazia, Klingel, Karin, Adler, Eric D., Camici, Paolo G., and Cooper, Leslie T., Jr.

Published
2022
Full Text
View/download PDF

7. Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy

Author

Joy, George, Kelly, Christopher I., Webber, Matthew, Pierce, Iain, Teh, Irvin, McGrath, Louise, Velazquez, Paula, Hughes, Rebecca K., Kotwal, Huafrin, Das, Arka, Chan, Fiona, Bakalakos, Athanasios, Lorenzini, Massimiliano, Savvatis, Konstantinos, Mohiddin, Saidi A., Macfarlane, Peter W., Orini, Michele, Manisty, Charlotte, Kellman, Peter, Davies, Rhodri H., Lambiase, Pier D., Nguyen, Christopher, Schneider, Jurgen E., Tome, Maite, Captur, Gabriella, Dall’Armellina, Erica, Moon, James C., and Lopes, Luis R.

Published
2023
Full Text
View/download PDF

9. Circulating c-Met–Expressing Memory T Cells Define Cardiac Autoimmunity

Author

Fanti, Silvia, Stephenson, Edward, Rocha-Vieira, Etel, Protonotarios, Alexandros, Kanoni, Stavroula, Shahaj, Eriomina, Longhi, M. Paula, Vyas, Vishal S., Dyer, Carlene, Pontarini, Elena, Asimaki, Angeliki, Bueno-Beti, Carlos, De Gaspari, Monica, Rizzo, Stefania, Basso, Cristina, Bombardieri, Michele, Coe, David, Wang, Guosu, Harding, Daniel, Gallagher, Iain, Solito, Egle, Elliott, Perry, Heymans, Stephane, Sikking, Maurits, Savvatis, Konstantinos, Mohiddin, Saidi A., and Marelli-Berg, Federica M.

Published
2022
Full Text
View/download PDF

10. Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry

Author

Mahmod, Masliza, Jacoby, Daniel, White, James, Chiribiri, Amedeo, Helms, Adam, Choudhury, Lubna, Michels, Michelle, Bradlow, William, Salerno, Michael, Heitner, Stephen, Prasad, Sanjay, Mohiddin, Saidi, Swoboda, Peter, Mahrholdt, Heiko, Bucciarelli-Ducci, Chiara, Weinsaft, Jonathan, Kim, Han, McCann, Gerry, van Rossum, Albert, Williamson, Eric, Flett, Andrew, Dawson, Dana, Mongeon, F. Pierre, Olivotto, Iacopo, Crean, Andrew, Owens, Anjali, Anderson, Lisa, Biagini, Elena, Newby, David, Berry, Colin, Kim, Bette, Larose, Eric, Abraham, Theodore, Sherrid, Mark, Nagueh, Sherif, Rimoldi, Ornella, Elstein, Eleanor, Autore, Camillo, Neubauer, Stefan, Kolm, Paul, Ho, Carolyn Y., Kwong, Raymond Y., Desai, Milind Y., Dolman, Sarahfaye F., Appelbaum, Evan, Desvigne-Nickens, Patrice, DiMarco, John P., Friedrich, Matthias G., Geller, Nancy, Harper, Andrew R., Jarolim, Petr, Jerosch-Herold, Michael, Kim, Dong-Yun, Maron, Martin S., Schulz-Menger, Jeanette, Piechnik, Stefan K., Thomson, Kate, Zhang, Cheng, Watkins, Hugh, Weintraub, William S., and Kramer, Christopher M.

Published
2019
Full Text
View/download PDF

12. Characterizing the hypertensive cardiovascular phenotype in the UK Biobank

Author

Elghazaly, Hussein, McCracken, Celeste, Szabo, Liliana, Malcomson, James M., Manisty, Charlotte H, Davies, Alun H, Piechnik, Stefan K., Harvey, Nicholas, Neubauer, Stefan, Mohiddin, Saidi A., Petersen, Steffen E., and Raisi-Estabragh, Zahra

Abstract

Aims: to describe hypertension-related cardiovascular magnetic resonance (CMR) phenotypes in the UK Biobank considering variations across patient populations.Methods and results: we studied 39,095 (51.5% women, mean age: 63.9±7.7 years, 38.6% hypertensive) participants with CMR data available. Hypertension status was ascertained through health record linkage. Associations between hypertension and CMR metrics were estimated using multivariable linear regression adjusting for major vascular risk factors. Stratified analyses were performed by sex, ethnicity, time since hypertension diagnosis, and blood pressure (BP) control. Results are standardized beta coefficients, 95% confidence intervals (CIs), and p-values corrected for multiple testing. Hypertension was associated with concentric left ventricular (LV) hypertrophy (increased LV mass, wall thickness, concentricity index), poorer LV function (lower global function index, worse global longitudinal strain), larger left atrial (LA) volumes, lower LA ejection fraction, and lower aortic distensibility. Hypertension was linked to significantly lower myocardial native T1 and increased LV ejection fraction. Women had greater hypertension-related reduction in aortic compliance than men. The degree of hypertension-related LV hypertrophy was greatest in Black ethnicities. Increasing time since diagnosis of hypertension was linked to adverse remodelling. Hypertension-related remodelling was substantially attenuated in hypertensives with good BP control.Conclusions: hypertension was associated with concentric LV hypertrophy, reduced LV function, dilated poorer functioning LA, and reduced aortic compliance. Whilst the overall pattern of remodelling was consistent across populations, women had greater hypertension-related reduction in aortic compliance and Black ethnicities showed the greatest LV mass increase. Importantly, adverse cardiovascular remodelling was markedly attenuated in hypertensives with good BP control.

Published
2023

13. Reply: Discourage LVNC or Revise the Criteria of LVNC?

Author

Petersen, Steffen E., Jensen, Bjarke, Aung, Nay, Friedrich, Matthias G., McMahon, Colin J., Mohiddin, Saidi A., Pignatelli, Ricardo H., Ricci, Fabrizio, Anderson, Robert H., Bluemke, David A., Medical Biology, ACS - Heart failure & arrhythmias, and ARD - Amsterdam Reproduction and Development

Published
2023

14. Genetic and clinical investigations in the familial cardiomyopathies

Author

Mohiddin, Saidi A.

Subjects
616.1
Abstract

Hypertrophic cardiomyopathy (HCM) is the single most common cause of sudden death in otherwise healthy young people, found in approximately half of such cases. It is a genetic disease occurring in approximately 1 in 500-1,000 of the general population. The myopathy is often undiagnosed and asymptomatic cases are often unrecognised. Usually, HCM develops with progressive asymmetric LV hypertrophy (LVH) during the period of rapid body growth of adolescence, but it may be present in childhood or even before birth. Progressive hypertrophy after age 20 is uncommon, but initial diagnosis even in old age is not. The hypertrophy predominantly involves the LV, and is often more marked than in any other cardiac disease. It represents hypertrophy and hyperplasia of several cell types, including cardiac myocytes, fibroblasts, and smooth muscle cells, along with excessive collagen and matrix deposition. The normal parallel arrangement of myocytes is often disturbed (fibre disarray).

Published
2010

18. Delayed-onset myocarditis following COVID-19

Author

Bajaj, Retesh, Sinclair, Hannah C, Patel, Kush, Low, Ben, Pericao, Ana, Manisty, Charlotte, Guttmann, Oliver, Zemrak, Filip, Miller, Owen, Longhi, Paula, Proudfoot, Alastair, Lams, Boris, Agarwal, Sangita, Marelli-Berg, Federica M, Tiberi, Simon, Cutino-Moguel, Teresa, Carr-White, Gerry, and Mohiddin, Saidi A

Published
2021
Full Text
View/download PDF

19. Lamin and the heart

Author

Captur, Gabriella, Arbustini, Eloisa, Bonne, Gisele, Syrris, Petros, Mills, Kevin, Wahbi, Karim, Mohiddin, Saidi A, McKenna, William J, Pettit, Stephen, Ho, Carolyn Y, Muchir, Antoine, Gissen, Paul, Elliott, Perry M, and Moon, James C

Subjects
Gene mutations -- Research, Heart diseases -- Diagnosis, Heart diseases -- Genetic aspects, Electrocardiogram -- Usage, Electrocardiography -- Usage, Health
Published
2018

21. Dilated cardiomyopathy and chronic cardiac inflammation: Pathogenesis, diagnosis and therapy.

Author

Harding, Daniel, Chong, Ming H. A., Lahoti, Nishant, Bigogno, Carola M., Prema, Roshni, Mohiddin, Saidi A., and Marelli‐Berg, Federica

Subjects
DILATED cardiomyopathy, CARDIAC arrest, BRUGADA syndrome, CELLULAR immunity, DIAGNOSIS
Abstract

Dilated cardiomyopathy (DCM) is typically defined by left ventricular dilation and systolic dysfunction in the absence of a clear precipitant. Idiopathic disease is common; up to 50% of patients with DCM have no cause found despite imaging, genetic and biopsy assessments. Treatment remains focused on managing symptoms, reducing the risk of sudden cardiac death and ameliorating the structural and electrical complications of disease progression. In the absence of aetiology‐specific treatments, the condition remains associated with a poor prognosis; mortality is approximately 40% at 10 years. The role of immune‐mediated inflammatory injury in the development and progression of DCM was first proposed over 30 years ago. Despite the subsequent failures of three large clinical trials of immunosuppressive treatment (ATTACH, RENEWAL and the Myocarditis Treatment Trial), evidence for an abnormal adaptive immune response in DCM remains significant. In this review, we summarise and discuss available evidence supporting immune dysfunction in DCM, with a specific focus on cellular immunity. We also highlight current clinical and experimental treatments. We propose that the success of future immunosuppressive treatment trials in DCM will be dependent on the deep immunophenotyping of patients, to identify those with active inflammation and/or an abnormal immune response who are most likely to respond to therapy. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

22. International External Validation Study of the 2014 European Society of Cardiology Guidelines on Sudden Cardiac Death Prevention in Hypertrophic Cardiomyopathy (EVIDENCE-HCM)

Author

O’Mahony, Constantinos, Jichi, Fatima, Ommen, Steve R., Christiaans, Imke, Arbustini, Eloisa, Garcia-Pavia, Pablo, Cecchi, Franco, Olivotto, Iacopo, Kitaoka, Hiroaki, Gotsman, Israel, Carr-White, Gerald, Mogensen, Jens, Antoniades, Loizos, Mohiddin, Saidi A., Maurer, Mathew S., Tang, Hak Chiaw, Geske, Jeffrey B., Siontis, Konstantinos C., Mahmoud, Karim D., Vermeer, Alexa, Wilde, Arthur, Favalli, Valentina, Guttmann, Oliver P., Gallego-Delgado, Maria, Dominguez, Fernando, Tanini, Ilaria, Kubo, Toru, Keren, Andre, Bueser, Teofila, Waters, Sarah, Issa, Issa F., Malcolmson, James, Burns, Tom, Sekhri, Neha, Hoeger, Christopher W., Omar, Rumana Z., and Elliott, Perry M.

Published
2018
Full Text
View/download PDF

26. The Pathogenesis and Long-Term Consequences of COVID-19 Cardiac Injury: State-of-the-Art Review

Author

Siripanthong, Bhurint, Asatryan, Babken, Hanff, Thomas C, Chatha, Salman R, Khanji, Mohammed Y, Ricci, Fabrizio, Muser, Daniele, Ferrari, Victor A, Nazarian, Saman, Santangeli, Pasquale, Deo, Rajat, Cooper, Leslie T, Mohiddin, Saidi A, and Chahal, C Anwar A

Subjects
610 Medicine & health
Abstract

The mechanisms of coronavirus disease 2019 (COVID-19)-related myocardial injury comprise both direct viral invasion and indirect (hypercoagulability and immune-mediated) cellular injuries. Some patients with COVID-19 cardiac involvement have poor clinical outcomes, with preliminary data suggesting long-term structural and functional changes. These include persistent myocardial fibrosis, edema, and intraventricular thrombi with embolic events, while functionally, the left ventricle is enlarged, with a reduced ejection fraction and new-onset arrhythmias reported in a number of patients. Myocarditis post-COVID-19 vaccination is rare but more common among young male patients. Larger studies, including prospective data from biobanks, will be useful in expanding these early findings and determining their validity.

Published
2022
Full Text
View/download PDF

31. European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology

Author

Elliott, Perry, Charron, Philippe, Blanes, Juan Ramon Gimeno, Tavazzi, Luigi, Tendera, Michal, Konté, Marème, Laroche, Cécile, Maggioni, Aldo P., Anastasakis, Aris, Arbustini, Eloisa, Asselbergs, Folkert W., Axelsson, Anna, Brito, Dulce, Caforio, Alida L.P., Carr-White, Gerald, Czekaj, Agata, Damy, Thibaud, Devoto, Emmanuela, Favalli, Valentina, Findlay, Iain, Garcia-Pavia, Pablo, Hagège, Albert, Heliö, Tiina, Iliceto, Sabino, Isnard, Richard, Jansweijer, Joeri A., Limongelli, Giuseppe, Linhart, Ales, Cuenca, David López, Mansencal, Nicolas, McKeown, Pascal, Mogensen, Jens, Mohiddin, Saidi A., Monserrat, Lorenzo, Olivotto, Iacopo, Rapezzi, Claudio, Rigopoulos, A.G., Rosmini, Stefania, Pfeiffer, Barbara, and Wicks, Eleanor

Published
2016
Full Text
View/download PDF

32. Recommendations for Multimodality Cardiovascular Imaging of Patients with Hypertrophic Cardiomyopathy: An Update from the American Society of Echocardiography, in Collaboration with the American Society of Nuclear Cardiology, the Society for Cardiovascular Magnetic Resonance, and the Society of Cardiovascular Computed Tomography

Author

Nagueh, Sherif F., Phelan, Dermot, Abraham, Theodore, Armour, Alicia, Desai, Milind Y., Dragulescu, Andreea, Gilliland, Yvonne, Lester, Steven J., Maldonado, Yasdet, Mohiddin, Saidi, Nieman, Koen, Sperry, Brett W., and Woo, Anna

Abstract

Hypertrophic cardiomyopathy (HCM) is defined by the presence of left ventricular hypertrophy in the absence of other potentially causative cardiac, systemic, syndromic, or metabolic diseases. Symptoms can be related to a range of pathophysiologic mechanisms including left ventricular outflow tract obstruction with or without significant mitral regurgitation, diastolic dysfunction with heart failure with preserved and heart failure with reduced ejection fraction, autonomic dysfunction, ischemia, and arrhythmias. Appropriate understanding and utilization of multimodality imaging is fundamental to accurate diagnosis as well as longitudinal care of patients with HCM. Resting and stress imaging provide comprehensive and complementary information to help clarify mechanism(s) responsible for symptoms such that appropriate and timely treatment strategies may be implemented. Advanced imaging is relied upon to guide certain treatment options including septal reduction therapy and mitral valve repair. Using both clinical and imaging parameters, enhanced algorithms for sudden cardiac death risk stratification facilitate selection of HCM patients most likely to benefit from implantable cardioverter-defibrillators.

Published
2022
Full Text
View/download PDF

33. Therapeutic benefits of distal ventricular pacing in mid-cavity obstructive hypertrophic cardiomyopathy.

Author

Malcolmson, James W., Hughes, Rebecca K., Joshi, Abhishek, Cooper, Jackie, Breitenstein, Alexander, Ginks, Matthew, Petersen, Steffen E., Mohiddin, Saidi A., and Dhinoja, Mehul B.

Subjects
CARDIAC pacing, HYPERTROPHIC cardiomyopathy, PHRENIC nerve, VENTRICULAR outflow obstruction, NEURAL stimulation, ATRIAL fibrillation, HEMODYNAMICS, INTRAVENTRICULAR hemorrhage
Abstract

Introduction: Hypertrophic cardiomyopathy (HCM) patients with left ventricular (LV) mid-cavity obstruction (LVMCO) often experience severe drug-refractory symptoms thought to be related to intraventricular obstruction. We tested whether ventricular pacing, guided by invasive haemodynamic assessment, reduced LVMCO and improved refractory symptoms. Methods: Between December 2008 and December 2017, 16 HCM patients with severe refractory symptoms and LVMCO underwent device implantation with haemodynamic pacing study to assess the effect on invasively defined LVMCO gradients. The effect on the gradient of atrioventricular (AV) synchronous pacing from sites including right ventricular (RV) apex and middle cardiac vein (MCV) was retrospectively assessed. Results: Invasive haemodynamic data were available in 14 of 16 patients. Mean pre-treatment intracavitary gradient was 77 ± 22 mmHg (in sinus rhythm) versus 21 ± 21 mmHg during pacing from optimal ventricular site (95% CI: −70.86 to −40.57, p < 0.0001). Optimal pacing site was distal MCV in 12/16 (86%), RV apex in 1/16 and via epicardial LV lead in 1/16. Pre-pacing Doppler-derived gradients were significantly higher than at follow-up (47 ± 15 versus 24 ± 16 mmHg, 95% CI: −37.19 to −13.73, p < 0.001). Median baseline NYHA class was 3, which had improved by ⩾1 NYHA class in 13 of 16 patients at 1-year post-procedure (p < 0.001). The mean follow-up duration was 4.6 ± 2.7 years with the following outcomes: 8/16 (50%) had continued symptomatic improvement, 4/16 had symptomatic decline and 4/16 died. Contributors to symptomatic decline included chronic atrial fibrillation (AF) (n = 5), phrenic nerve stimulation (n = 3) and ventricular ectopy (n = 1). Conclusion: In drug-refractory symptomatic LVMCO, distal ventricular pacing can reduce intracavitary obstruction and may provide long-term symptomatic relief in patients with limited treatment options. A haemodynamic pacing study is an effective strategy for identifying optimal pacing site and configuration. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

34. Almanac 2014: cardiomyopathies

Author

Guttmann, Oliver P., Mohiddin, Saidi A., and Elliott, Perry M.

Subjects
Usage, Diagnosis, Practice, Biological markers -- Usage, Diagnostic imaging -- Usage, Myocardial diseases -- Diagnosis, Myocardial diseases -- Practice, Cardiomyopathy -- Diagnosis, Cardiomyopathy -- Practice, Heart diseases -- Diagnosis, Heart diseases -- Practice
Published
2014

40. Catheter ablation of atrial fibrillation in patients with hypertrophic cardiomyopathy: a European observational multicentre study.

Author

Creta, Antonio, Elliott, Perry, Earley, Mark J, Dhinoja, Mehul, Finlay, Malcolm, Sporton, Simon, Chow, Anthony, Hunter, Ross J, Papageorgiou, Nikolaos, Lowe, Martin, Mohiddin, Saidi A, Boveda, Serge, Adragao, Pedro, Jebberi, Zeynab, Matos, Daniel, Schilling, Richard J, Lambiase, Pier D, and Providência, Rui

Subjects
ATRIAL fibrillation diagnosis, RESEARCH, CARDIAC hypertrophy, RESEARCH methodology, CRYOSURGERY, ATRIAL fibrillation, CATHETER ablation, MEDICAL cooperation, EVALUATION research, DISEASE relapse, TREATMENT effectiveness, COMPARATIVE studies, HEART atrium, RESEARCH funding, DISEASE complications
Abstract

Aims: Atrial fibrillation (AF) is common in hypertrophic cardiomyopathy (HCM). Data on the efficacy of catheter ablation of AF in HCM patients are sparse.Methods and Results: Observational multicentre study in 137 HCM patients (mean age 55.0 ± 13.4, 29.1% female; 225 ablation procedures). We investigated (i) the efficacy of catheter ablation for AF beyond the initial 12 months; (ii) the available risk scores, stratification schemes and genotype as potential predictors of arrhythmia relapse, and (iii) the impact of cryoballoon vs. radiofrequency in procedural outcomes. Mean follow-up was 43.8 ± 37.0 months. Recurrences after the initial 12-month period post-ablation were frequent, and 24 months after the index procedure, nearly all patients with persistent AF had relapsed, and only 40% of those with paroxysmal AF remained free from arrhythmia recurrence. The APPLE score demonstrated a modest discriminative capacity for AF relapse post-ablation (c-statistic 0.63, 95% CI 0.52-0.75; P = 0.022), while the risk stratification schemes for sudden death did not. On multivariable analysis, left atrium diameter and LV apical aneurysm were independent predictors of recurrence. Fifty-eight patients were genotyped; arrhythmia-free survival was similar among subjects with different gene mutations. Rate of procedural complications was high (9.3%), although reducing over time. Outcome for cryoballoon and radiofrequency ablation was comparable.Conclusion: Very late AF relapses post-ablation is common in HCM patients, especially in those with persistent AF. Left atrium size, LV apical aneurysm, and the APPLE score might contribute to identify subjects at higher risk of arrhythmia recurrence. First-time cryoballoon is comparable with radiofrequency ablation. [ABSTRACT FROM AUTHOR]

Published
2021
Full Text
View/download PDF

49. Safety and feasibility of hospital discharge 2 days following primary percutaneous intervention for ST-segment elevation myocardial infarction

Author

Jones, Daniel A, Rathod, Krishnaraj S, Howard, James Philip, Gallagher, Sean, Antoniou, Sotiris, De Palma, Rodney, Guttmann, Oliver, Cliffe, Samantha, Colley, Judith, Butler, Jane, Ferguson, Eileen, Mohiddin, Saidi, Kapur, Akhil, Knight, Charles J, Jain, Ajay K, Rothman, Martin T, Mathur, Anthony, Timmis, Adam D, Smith, Elliot J, and Wragg, Andrew

Published
2012
Full Text
View/download PDF

50. Modification of human hearing loss by plasma-membrane calcium pump PMCA2

Author

Schultz, Julie M., Filoteo, Adelaida G., Morell, Robert J., Fananapazir, Lameh, Penniston, John T., Caride, Ariel J., Yandan Yang, Lagziel, Ayala, Penheiter, Alan R., Madeo, Anne C., Mohiddin, Saidi A., and Griffith, Andrew J.

Subjects
Cell membranes -- Research, Hearing loss -- Care and treatment
Abstract

The case of five adult siblings with autosomal recessive sensorineural hearing loss, where two had high-frequency loss, and the other three had sever-to-profound loss affecting all frequencies is presented. Genetic evaluation revealed that a homozygous mutation in CDH23 caused the hearing loss and that a heterozygous, hypofunctional variant (V586M) in plasma-membrane calcium pump PMCA2, which is encoded by ATP2B2, was associated with increased loss in the three severely affected siblings.

Published
2005

Catalog

Books, media, physical & digital resources
See catalog results