Results 61 to 70 of about 924,459 (214)

Expanding the Utility of Exome Sequencing in Preventive and Population Genetics

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carrier screening is a long‐standing genetic testing process offered to at‐risk couples, with or without a family history, who might have pregnancies affected by an autosomal recessive (AR) or X‐linked (XL) disorder. A total of 276 unrelated individuals, initially referred for rare disorder screening by clinicians, were enrolled in this study ...
Charilaos Kostoulas, Athanasia Sesse, Ioanna Bouba, Robert Najdecki, Spyridon Konitsiotis, Sofia Markoula, Ioannis Georgiou   +6 more
wiley   +1 more source

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Congenital Myopathy Due to RyR1 Gene Mutation in a Newborn Masquerading as a Consequence of Hypoxic-ischemic Encephalopathy

Indian Pediatrics Case Reports
Background: Congenital myopathies may be a cause of prolonged and persistent hypotonia and weakness in a newborn, which may be overlooked as a neurological consequence of hypoxic-ischemic encephalopathy.
Yamini Patial, Rohit Anand
doaj   +1 more source

High Diagnosis Rate for Nonimmune Hydrops Fetalis With Prenatal Clinical Genome: Expanded Results From the Hydrops‐Yielding Diagnostic Results of Prenatal Sequencing (HYDROPS) Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nonimmune hydrops fetalis (NIHF) is characterized by abnormal fluid accumulation in ≥ 2 fetal compartments and may be genetic. The incremental diagnostic yield of prenatal exome sequencing (ES) for NIHF following a negative standard workup was previously explored on 22 cases.
Stephanie M. Rice, Mona M. Makhamreh, Sascha Wodoslawsky, Mariella Toro, Elizabeth Critchlow, Brandy Firman, Ruby Liu, Babi Ramesh Nallamilli, Madhuri Hegde, Seth I. Berger, Huda B. Al‐Kouatly   +10 more
wiley   +1 more source

Zebrafish Models of Congenital Myopathy

, 2015
The congenital myopathies are a diverse group of inherited neuromuscular disorders that manifest as skeletal muscle weakness at birth or in infancy, and are classically defined by the predominant morphological features observed on muscle biopsy.
Smith, Laura L.
core   +6 more sources

Case Report: RYR1-related myopathy with hypoxic ischemic encephalopathy—a case of severe neonatal presentation due to a de novo variant of uncertain significance

Frontiers in Pediatrics
Pathogenic variants in the Ryanodine Receptor 1 (RYR1) gene represent the most common cause of congenital myopathy. The severity of RYR1-related myopathy presenting in the neonatal period is quite variable, ranging from a perinatal lethal type to a ...
Saptadweepa Sanghamitra, Rupashree Mandala, Hetal Budh, Yashita Arora, Pedro Rivera-Hernandez, N Ja Hpa, Valerie Elberson, Munmun Rawat, Srinivasan Mani   +8 more
doaj   +1 more source

Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy

Frontiers in Genetics, 2023
Objective: Nemaline myopathies are a heterogeneous group of congenital myopathies caused by mutations in different genes associated with the structural and functional proteins of thin muscular filaments.
Cristina Skrypnyk, Cristina Skrypnyk, Aseel Ahmed Husain, Hisham Y. Hassan, Jameel Ahmed, Abdulla Darwish, Latifa Almusalam, Noureddine Ben Khalaf, Fahad Al Qashar   +8 more
doaj   +1 more source

Free left ventricular wall rupter in a newborn. [PDF]

, 2015
Free left ventricular wall rupture is very rare but mostly fatal complication of acute myocardial infarction in the elderly. Without the presence of congenital heart disease, preceding cardiac surgery or an isolated ventricular diverticulum ...
Wagner, Bendicht Peter, Hutter, Damian, Wagner, B., Kreiter, Bianca, Hutter, Damian Marco, Kadner, A, Riedel, T., Pfammatter, Jean-Pierre, Riedel, Thomas, Kadner, Alexander   +9 more
core   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source

SELENON -related congenital myopathies: first report of Lebanese cases

Journal of Rare Diseases
Purpose SELENON -related congentital myopathy is a rare autosomal recessive congenital myopathy characterized by early-onset axial weakness, spinal rigidity, and progressive respiratory insufficiency.
Dina Al Haj, Lynn Daoud, Rimane Abi Younes, Edouard Sayad, Alain Sayad, Hicham Mansour, Abeer Hani   +6 more
doaj   +1 more source