Results 31 to 40 of about 38,417 (217)
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
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A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing [PDF]
Neonatal Medicine, 2021 Nemaline myopathy is a genetically heterogeneous neuromuscular disorder and one of the most common congenital myopathies. The clinical manifestations usually vary depending on the age of onset.
Yoong-a Suh +3 more
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Congenital myopathies: an update [PDF]
Developmental Medicine & Child Neurology, 2019 Congenital myopathies comprise a clinical, histopathological, and genetic heterogeneous group of rare hereditary muscle diseases that are defined by architectural abnormalities in the muscle fibres. They are subdivided by the predominant structural pathological change on muscle biopsy, resulting in five subgroups: (1) core myopathies; (2) nemaline ...
openaire +2 more sources
The molecular dysregulation of excitation contraction coupling in patients with congenital muscle disorders [PDF]
, 2015 Excitation contraction coupling (ECC) is the process whereby an action potential spreading throughout the muscle membrane activates muscle contraction, by releasing Ca2+ from the Sarcoplasmic Reticulum (SR).
Rokach, Ori
core +1 more source
Bone complications in patients diagnosed with congenital myopathy: a scoping review
, 2021 This scoping review aims to shed light on the prevalence of bone complications, including osteoporosis and bone fractures, in patients diagnosed with a congenital myopathy by collecting case reports, case series and any other type of articles on bone ...
Karlijn Bouman
core +4 more sources
Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.
, 2019 Dihydropyridine receptor congenital myopathy is a recently described congenital myopathy caused by dominant or recessive mutations in the CACNA1S gene. To date, only 11 cases from 7 families were described in a single report.
YİŞ, ULUÇ +9 more
core +2 more sources
Bi-allelic mutations in MYL1 cause a severe congenital myopathy [PDF]
, 2018 Congenital myopathies are typically characterised by early onset hypotonia, weakness and hallmark features on biopsy. Despite the rapid pace of gene discovery, similar to 50% of patients with a congenital myopathy remain without a genetic diagnosis ...
Ravenscroft, Gianina +18 more
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An adult nemaline myopathy patient with respiratory and heart failure harboring a novel NEB variant
eNeurologicalSci, 2020 Nemaline myopathy is a heterogeneous disorder of skeletal muscle, and histologically characterized by the presence of nemaline bodies in muscle fibers. Patients with typical congenital form of nemaline myopathy initially present with proximal but later ...
Masahiro Ohara +7 more
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Myoimaging in Congenital Myopathies
Seminars in Pediatric Neurology, 2019 There is a great clinical and genetic heterogeneity in congenital myopathies. Myo-MRI with pattern recognition has become a first-line complementary tool in clinical practice for this group of diseases. For diagnostic purposes, whole-body imaging techniques are preferred when involvement is axial or diffuse, as in most congenital myopathies, because of
Carlier, Robert-Yves +1 more
openaire +5 more sources
Case Reports in Pediatrics, 2012 The authors of this paper wish to present a case of fatal cor pulmonale with right ventricular hypertrophy complicated by a congenital myopathy. It is our intention to demonstrate the importance of vigilant clinical assessment of children with a ...
John M. Holst, Mary J. Willis
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