Results 71 to 80 of about 276,376 (316)
m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr +5 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Noonan syndrome (NS) is a genetically heterogeneous disorder characterized by a broad spectrum of clinical features resulting from dysregulation of the RAS/MAPK pathway. Although complex genotypes are increasingly recognized in NS, cases harboring two distinct pathogenic variants in different NS genes remain extremely rare.
Francesco Prevedello +10 more
wiley +1 more source
Analysis of desmoplakin in arrythmogenic right ventricular cardiomyopathy
, 2010 Includes bibliographical references (leaves 71-79).It has been shown that all forms of cardiomyopathy, including the dilated, hypertrophic, restrictive, and right ventricular arrhythmogenic forms, are found in African populations.
Fish, Maryam
core
Recurrent Takotsubo Cardiomyopathy
, 2016 Stress-induced cardiomyopathy or takotsubo syndrome is a transient cardiac dysfunction which is precipitated by intense emotional or physical stress. It mimics acute coronary syndrome clinically (chest pain and dyspnea) and has specific echocardiographic
Erkan Yıldırım +3 more
core +1 more source
Quality first in obstructive hypertrophic cardiomyopathy
, 2021 Increasing clinician awareness, earlier diagnosis, and implantable cardioverter-defibrillators have allowed hypertrophic cardiomyopathy to transition from being a relatively common cause of sudden death in young people to a chronic disease affecting ...
Prasad, Sandhir B, Atherton, John J
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Expanding the Phenotype of TUFM‐Related Combined Oxidative Phosphorylation Deficiency 4
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Combined oxidative phosphorylation deficiency 4 (COXPD4) is a rare mitochondrial condition caused by biallelic deleterious variants in the nuclear‐encoded gene TUFM. To date, most individuals with COXPD4 have presented with encephalopathy, hypotonia, and abnormal brain imaging. Many of the reported individuals died in infancy. We aim to expand
Noémie Villeneuve‐Cloutier +2 more
wiley +1 more source
Understanding the genetics of adult-onset dilated cardiomyopathy: what a clinician needs to know.
, 2021 There is increasing understanding of the genetic basis to dilated cardiomyopathy and in this review, we offer a practical primer for the practising clinician.
Tayal, U. +12 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Since 2015, Ann and Robert H. Lurie Children's Hospital has performed diagnostic testing for infants who screen positive for mucopolysaccharidosis type II (MPS II) on the Illinois newborn screen. Preliminary diagnostic testing includes measurement of plasma iduronate‐2‐sulfatase enzyme activity and urinary glycosaminoglycan analysis, followed ...
Carly A. Rasmussen +5 more
wiley +1 more source
Heart disease in infants of diabetic mothers [PDF]
, 2000 Congenital anomalies occur more commonly in infants born to diabetic mothers, and cardiac defects predominate. Although respiratory problems are also frequently found in those infants, they need to be differentiated from cardiovascular problems that ...
Narchi, Hassib, Kulaylat, N.
core
, 2011 Mutation of mitochondrial DNA (mtDNA) G13513A, encoding the ND5 subunit of respiratory chain complex I, can cause mitochondrial encephalopathy with lactic acidosis and stroke -like episodes (MELAS) and Leigh syndrome.
WANG, SHI-BING;WENG, WEN-CHIN;LEE, NI-CHUNG;HWU, WUH-LIANG;FAN, PI-CHUAN;LEE, WANG-TSO +1 more
core +1 more source