Results 41 to 50 of about 260,514 (183)

Application of whole exome sequencing in the diagnosis of muscular disorders: a study of Taiwanese pediatric patients

Frontiers in Genetics
BackgroundMuscular dystrophies and congenital myopathies encompass various inherited muscular disorders that present diagnostic challenges due to clinical complexity and genetic heterogeneity.MethodsThis study aimed to investigate the use of whole exome ...
Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chung-Lin Lee, Chih-Kuang Chuang, Chih-Kuang Chuang, Huei-Ching Chiu, Ya-Hui Chang, Ya-Hui Chang, Yuan-Rong Tu, Yun-Ting Lo, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Hsiang-Yu Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin, Shuan-Pei Lin   +22 more
doaj   +1 more source

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

Congenital myopathies: characteristic and subtypes in Hong Kong [PDF]

, 2015
Congenital myopathies are a group of childhood onset neuromuscular disorder with the diagnosis mainly based on genetic and pathological features. This is a unique group with phenotypic, genotypic and pathological heterogeneity, so the confirmation of an ...
Cheng, Y, Lam, WMW, Chan, AOK, Fung, STH, Ng, GSF, Wong, S, Wong, VCN, Lee, HCH, Ip, JJK, Chan, HSS, Cherk, SWW, Ho, RSL, Chan, TSK, Shek, WH, Lee, CN, Liu, KT   +15 more
core   +1 more source

Top ten discoveries of the year: Neuromuscular disease

Free Neuropathology, 2020
This review highlights ten important advances in the neuromuscular disease field that either were first reported in 2019, or have reached a broad consensus during that year.
Marta Margeta
doaj   +1 more source

Early diagnosis of congenital muscular pathologies using next-generation sequencing: experiences from a tertiary center in Morocco

Egyptian Journal of Medical Human Genetics, 2023
Background Congenital muscular dystrophies (CMD) and congenital myopathies (CM) are clinically and genetically heterogeneous groups of neuromuscular disorders resulting in prenatal or early-onset hypotonia, muscle weakness, myogenic pattern, and ...
Youssef El Kadiri, Ilham Ratbi, Mouna Ouhenach, Siham Chafai Elalaoui, Imane Cherkaoui Jaouad, Abdelali Zrhidri, Maryem Sahli, Nazha Birouk, Abdelaziz Sefiani, Jaber Lyahyai   +9 more
doaj   +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

Consensus Statement on Standard of Care for Congenital Myopathies

, 2012
Recent progress in scientific research has facilitated accurate genetic and neuropathological diagnosis of congenital myopathies. However, given their relatively low incidence, congenital myopathies remain unfamiliar to the majority of care providers ...
Schuler, Pamela M, Amburgey, Kimberly, Schuler, Pamela M., Schroth, Mary K., Florence, Julaine M, Bonnemann, Carsten, Yuan, Nanci, Fitzgerald, Dominic, North, Kathryn, Jungbluth, Heinz; id_orcid, Apkon, Susan, Koumbourlis, Anastassios C., Koumbourlis, Anastassios C, Shapiro, Frederic, Main, Marion, Sewry, Caroline, Storhaug, Kari, Dowling, James J, Morrison, Leslie A, Rose, Kristy, Gurgel-Giannetti, Juliana, Schroth, Mary K, Bertini, Enrico, Laing, Nigel G., Wang, Ching H, Wang, Ching H., Gee, Richard, Morrison, Leslie A., Glanzman, Allan M., Sejersen, Thomas, Munns, Craig, Guillet, Marc, Weiss, Hali, Clarke, Nigel, Connolly, Anne M., Jungbluth, Heinz, Estournet-Mathiaud, Brigitte, Laing, Nigel G, Connolly, Anne M, Glanzman, Allan M, Bellini, Jonathan, Florence, Julaine M., Vainzof, Mariz, Dowling, James J., Hofmeister, Brittany   +44 more
core   +1 more source

Exome sequencing in undiagnosed congenital myopathy reveals new genes and refines genes–phenotypes correlations

Genome Medicine
Background Congenital myopathies are severe genetic diseases with a strong impact on patient autonomy and often on survival. A large number of patients do not have a genetic diagnosis, precluding genetic counseling and appropriate clinical management ...
Yvan de Feraudy, Marie Vandroux, Norma Beatriz Romero, Raphaël Schneider, Safaa Saker, Anne Boland, Jean-François Deleuze, Valérie Biancalana, Johann Böhm, Jocelyn Laporte   +9 more
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

Gene Expression Profiles of Inflammatory Myopathies

Pediatric Neurology Briefs, 2002
The simultaneous expression of 10,000 genes was measured, using Affymetrix GeneChip microarrays, in muscle specimens from 45 patients with various myopathies (dystrophy, congenital myopathy, and inflammatory myopathy) examined at Brigham and Women’s ...
J Gordon Millichap
doaj   +1 more source