congenital myopathy
Bi-allelic mutations in uncoordinated mutant number-45 myosin chaperone B are a cause for congenital myopathy
... presented with proximal weakness including Gower ’ s sign, and skeletal muscle biopsy revealed myopathic changes with core-like structures. Whole exome sequencing of this index patient lead to the discovery of a novel ...
5
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy
... Mice homozygous for a null allele of the Itga7 gene are viable and fertile, indicating that the α7β1 integrin is not essential for myogenesis. However, a histological analysis of skeletal muscle revealed typical symptoms ...
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Deficiency in Kelch protein Klhl31 causes congenital myopathy in mice
... in congenital myopathy with a heterogeneous col- lection of myopathic abnormalities, including stunted postnatal skeletal muscle growth, centronuclear myopathy, central cores, myofibrillar ...
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Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4
... The clinical phenotypes associated with mutations at p.R1460 described herein were more varied, which we attribute to the mixed LOF and GOF changes observed for both R1460Q and R1460W mutant channels. In the primary ...
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Congenital myopathy with hanging big toe due to homozygous myopalladin (MYPN) mutation
... is not uncommon, suggesting that the clinical variability may be related to the genetic background or modifier gene(s) of each patient [15]. In our patients, foot exten- sion was weak with extensor hallucis longus weaker ...
7
Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth
... The second male child of a non-consanguineous family (Family 14, Fig. 1c) was born after an uncomplicated pregnancy, by emergency Caesarean section for failure to progress. The baby was weak and hypotonic at birth, was ...
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Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature
... severe congenital NM with PPL causing bilateral chylothrax has never been previously ...of congenital myopathy (myotubular myopathy, congenital myotonic dystrophy type 1) with ...
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Clinical Reasoning: A 51-year-old woman with weakness and stiff neck
... One feature that may help narrow the differential diagnosis is the presence of paraspinal muscle atrophy and spinal rigidity. Spinal rigidity, characterized by limited range of motion of the cervical, thoracic, or ...
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MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples
... by different forms of limb-girdle muscular dystrophy or congenital myopathy (Additional file 2: Table S2) and compared with data from whole exome sequencing (WES) (Figure 1). For each sample, about 98% of ...
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Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype
... Nemaline myopathy (NM) is a rare congenital myopathy characterised by hypotonia, muscle weakness, and often skeletal muscle deformities with the presence of nemaline bodies (rods) in the muscle ...
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Uremic myopathy: is oxidative stress implicated in muscle dysfunction in uremia?
... to the high morbidity and mortality of these patients, especially at the end-stage renal failure. Many specific disease-related but also lifestyle factors (such as physical inactivity) can be seen as contributors to the ...
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Newborn Screening Fact Sheets
... deficiency, congenital adrenal hyperplasia, congenital hearing loss, congenital hypothyroidism, cystic fibrosis, galactosemia, homocystinuria, maple syrup urine disease, medium-chain acyl-coenzyme A ...
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A Mechanism for Statin-Induced Susceptibility to Myopathy
... SR Ca 2þ leak in cardiac myocytes from statin-treated rats. Our results showed a central role of increased ROS/RNS in the statin-induced destabilization of SR Ca 2þ control. This offers a simple explanation for the ...
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Griffin_unc_0153D_14931.pdf
... While in silico methods might indicate that a discovered mutation is potentially damaging, the effect of a mutation must be assessed at the level of the individual amino acid residue and at the level of the gene as a ...
129
Nemaline Myopathy as a Cause of Sleep Hypoventilation
... It is postulated that respiratory failure in nemaline myopathy may not be related to the severity of the muscle weakness but may result from a disturbance of the feedback required for no[r] ...
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Association between early prenatal exposure to ambient air pollution and birth defects: evidence from newborns in Xi’an, China
... oxidative damage [32]. Kannan reviewed that the PM effects on congenital anomalies may be through oxidative stress, placental inflammation and hemodynamic responses [35]. Wang inferred that environmental ...
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Malignancies in Korean Patients with Inflammatory Myopathy
... The aim of this study was to assess the prevalence and the common type of malignancies in Korean patients with poly- myositis (PM) and dermatomyositis (DM) and to evaluate the differences of clinical and laboratory ...
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An Unusual Case of Statin-Related Myopathy
... Some studies suggest that statin-induced myopathies may be due to decreases in mitochondrial function [12], however there is also evidence, particularly for individuals that have been taking statins for extended periods ...
5
Creatine as a Candidate to Prevent Statin Myopathy
... Such decreased content could cause mitochondrial impairment, since creatine 15.. is the final acceptor of the phosphate group of adenosine triphosphate (ATP) at the end o[r] ...
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Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients
... The proband (Case-4, Table 1) was a girl, the second child from healthy non consanguineous Indian parents. They previously lost a first child at 3 days of life pro- bably due to infection. She was born after an ...
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