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4,142 Possible Causes for CONGENITAL,, CYS862ARG, DEFICIENCY,, DUE, DYSTROPHY,, LAMA2, MUSCULAR, PARTIAL, TO

  • Congenital Muscular Dystrophy

    COL6A and LAMA2 are subtypes of congenital muscular dystrophy.[ncbi.nlm.nih.gov] The peculiar distribution pattern of enlarged mitochondria on muscle section seems to be due to a compensatory mechanism after the elimination of functionally defective mitochondria[ncbi.nlm.nih.gov] Congenital muscular dystrophies are autosomal recessively-inherited muscle diseases .[en.wikipedia.org] In patients with partial laminin α2 deficiency the phenotype is usually milder than in those with absent protein.[ncbi.nlm.nih.gov] Merosin-deficient CMD (MDCMD) is rare in Asian populations, but more common in Caucasians, comprising about 50% of CMDs.[ncbi.nlm.nih.gov] A new form of congenital muscular dystrophy (CMD) with multisystem involvement and characteristic mitochondrial structural changes, due to choline kinase beta (CHKB) gene[ncbi.nlm.nih.gov] The Col6a1GT/GT mice develop non-progressive weakness from younger age, accompanied by stunted muscle growth due to reduced IGF-1 signaling activity.[ncbi.nlm.nih.gov] A 20-year-old man with mild myopathy, external ophthalmoparesis, epilepsy, and diffuse white matter hyperintensity in the brain on magnetic resonance imaging had partial merosin[ncbi.nlm.nih.gov] Malnutrition not only leads to poor growth and delay in puberty but also affects the child’s general health, including cognitive function. 10-12 Pharyngeal and oesophageal[adc.bmj.com]

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  • Limb-Girdle Muscular Dystrophy

    Recessive mutations in LAMA2 commonly cause congenital muscular dystrophy (MDC1A) and, rarely, limb girdle muscular dystrophy (LGMD).[ncbi.nlm.nih.gov] Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy, slowly progressive[ncbi.nlm.nih.gov] We now report another rare case of partial epilepsy and limb-girdle muscular dystrophy type 1B with lamin A/C gene mutation.[ncbi.nlm.nih.gov] Clinical phenotype in POMT1-mutated patients ranges from congenital muscular dystrophy (CMD) with structural brain abnormalities, to limb-girdle muscular dystrophy (LGMD)[ncbi.nlm.nih.gov] Mutations in the GMPPB gene may underlie both limb girdle muscular dystrophy (LGMD) and congenital myasthenic syndrome (CMS).[ncbi.nlm.nih.gov] […] characteristic muscle involvement pattern, the clinical findings and the muscle biopsy results, we made a straightforward diagnosis of limb-girdle muscular dystrophy (LGMD) due[ncbi.nlm.nih.gov] dystrophy 1 (DM1), limb-girdle muscular dystrophy (LGMD), facioscapulohumeral muscular dystrophy (FSHD), becker muscular dystrophy (BMD), and distal myopathy with rimmed[ncbi.nlm.nih.gov] […] year-old female patient with a heterozygous p.R28W LMNA mutation, who presented with a novel clinical phenotype comprising severe limb-girdle muscular dystrophy, pronounced partial[ncbi.nlm.nih.gov] Mutations in fukutin cause Fukuyama congenital muscular dystrophy.[ncbi.nlm.nih.gov]

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  • Muscular Dystrophy

    Genes tested Primary panel ANO5 B3GALNT2 B4GAT1 CAPN3 CAV3 CHKB COL12A1 COL6A1 COL6A2 COL6A3 DAG1 DES DMD DNAJB6 DPM1 DPM2 DPM3 DYSF EMD FHL1 FKRP FKTN GAA GMPPB ISPD ITGA7 LAMA2[invitae.com] However, experts advise against the prolong use of such drugs due to its associated side effects.[symptoma.com] Unlike in Becker muscular dystrophy where a mutation in the DMD gene results in a partially functioning dystrophin protein, in Duchenne muscular dystrophy dystrophin is non-functioning[radiopaedia.org] Merosin-deficient congenital muscular dystrophy (MD-CMD) is the most common and severe form of congenital muscular dystrophy and is characterized by progressive severe hypotonia[ncbi.nlm.nih.gov] Germinal mosaicism in a sample of families with Duchenne/Becker muscular dystrophy with partial deletions in the DMD gene.[natera.com] We present the evolution of cardiac disease in three children with congenital muscular dystrophy presentation of LMNA-related muscular dystrophy.[ncbi.nlm.nih.gov] The main CMDs are: Merosin-deficient CMD, due to deficiency of α-laminin (merosin), a component of the basal lamina of myocytes and other cells.[neuropathology-web.org] Muscular dystrophy In affected muscle (right), the tissue has become disorganized and the concentration of dystrophin (green) is greatly reduced, compared to normal muscle[en.wikipedia.org] Objective Heart failure is currently the most serious complication of muscular dystrophy.[ncbi.nlm.nih.gov]

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  • Becker Muscular Dystrophy

    DMD, DNAJB2, DNAJB6, DNM2, DOK7, DPM1, DPM2, DPM3, DYNC1H1, DYSF, EGR2, EMD, FHL1, FKRP, FKTN, FLNC, GAA, GBE1, GMPPB, GNE, IGHMBP2, ISPD, ITGA7, KBTBD13, KLHL40, KLHL41, LAMA2[genedx.com] Our cases became unable to walk in their teens, and were introduced to mechanical ventilation due to respiratory muscle weakness in their twenties and thirties.[ncbi.nlm.nih.gov] Becker muscular dystrophy and Duchenne muscular dystrophy are both caused due to a mutated dystrophin gene.[symptoma.com] To determine the distribution of deletions in the two hot spots and the proportion of de novo and transmitted deletions, we analyzed 153 individuals with D/BMD and a DMD partial[ncbi.nlm.nih.gov] , familial and genetic disorders 10059117 Becker's muscular dystrophy PT 18.1 10010331 - Congenital, familial and genetic disorders 10013801 Duchenne muscular dystrophy PT[clinicaltrialsregister.eu] The results are encouraging for treatment of dystrophin-deficient muscle diseases.[ncbi.nlm.nih.gov] This is the first evidence that partial skipping of an exon harboring a nonsense mutation is due to disruption of a splicing enhancer sequence.[ncbi.nlm.nih.gov] A history of poor growth in early childhood associated with persistent diarrhea and iron deficiency anemia led to a diagnosis of celiac disease in a 9-yr-old boy hospitalized[ncbi.nlm.nih.gov] Immunohistochemical staining showed partial positivity of sarcolemma for dystrophin-N.[ncbi.nlm.nih.gov]

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  • West Syndrome

    Mutations in the LAMA2 gene cause autosomal recessive laminin α2 related congenital muscular dystrophy.[ncbi.nlm.nih.gov] We assume that the severe epilepsy is likely due to the trisomy 7q.[ncbi.nlm.nih.gov] Partial seizures often develop during the clinical course of infantile spasms.[ncbi.nlm.nih.gov] We report the case of an 11-month-old girl with congenital axonal neuropathy and West syndrome.[ncbi.nlm.nih.gov] 3-phosphoglycerate dehydrogenase deficiency is a severe but treatable disorder of serine synthesis, first described in 1996 (Jaeken et al. 1996a).[ncbi.nlm.nih.gov] We present here two cases of west syndrome where patients required dental care due to the presence of certain dental findings.[ncbi.nlm.nih.gov] Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births.[ncbi.nlm.nih.gov] In rare cases, it is due to an inherited, progressive metabolic disease.[ncbi.nlm.nih.gov] The diagnosis of vitamin B(12) deficiency can be difficult when the typical macrocytic anaemia is absent.[ncbi.nlm.nih.gov]

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  • Dantrolene

    This may be due to direct muscle contraction by dantrolene, an effect seen previously in vitro.[ncbi.nlm.nih.gov] Duchenne muscular dystrophy (DMD) causes profound and progressive muscle weakness and loss, resulting in early death.[ncbi.nlm.nih.gov] Within six hours the patient had a partial relapse which resolved completely following further intravenous dantrolene 2 mg/kg.[ncbi.nlm.nih.gov] An 18-month-old boy with congenital muscular dystrophy began to develop clear signs of the malignant hyperthermia syndrome after 85 min of halothane/nitrous oxide anaesthesia[ncbi.nlm.nih.gov] This case illustrates for the first time the beneficial effect of dantrolene in VLCAD deficiency.[ncbi.nlm.nih.gov] Research Article Muscular Dystrophy Genevieve C. Kendall 1 , 2 , 3 , * , Ekaterina I. Mokhonova 3 , 4 , * , Miriana Moran 3 , 5 , Natalia E. Sejbuk 3 , 5 , Derek W.[stm.sciencemag.org] In addition, she received unilateral partial sciatic neurolysis with 50% alcohol for severe knee flexor spasticity and intra-muscular Botulinum toxin A to both spastic upper[ncbi.nlm.nih.gov] Because some reported complications were likely due to factors other than dantrolene, a reduced set of cases was also defined. We used χ(2) and Mann-Whitney tests.[ncbi.nlm.nih.gov] CaM is an accessory protein that partially inhibits RyR2 channel activity.[ncbi.nlm.nih.gov]

    Missing: CYS862ARG LAMA2 TO
  • Congenital Muscular Dystrophy Type Ullrich

    Congenital Myopathy (Including Unspecified/Undiagnosed); Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy); Laminin Alpha 2 Related Congenital Muscular Dystrophy; LAMA2[diseaseinfosearch.org] Despite the reduction in COL6A1 RNA level due to nonsense RNA decay, three truncated alpha1 (VI) chains were produced as protein variants encoded by different out-of-frame[bmcmedgenet.biomedcentral.com] A better knowledge of congenital muscular dystrophies will improve the number of correct diagnoses and open new horizons for the treatment of such diseases.[ncbi.nlm.nih.gov] The patient studied showed a homozygous frameshift mutation with a PTC in the collagen VI alpha2 gene, which encodes a truncated but partially functional protein.[ncbi.nlm.nih.gov] We previously reported that the majority of patients with UCMD have sarcolemma-specific collagen VI deficiency (SSCD).[ncbi.nlm.nih.gov] […] gene ** LAMA2 on these pages / LAMA2 mutation database MDC1B (congenital muscular dystrophy type 1B, OMIM 604801 ) is a variant characterized by secondary merosin deficiency[dmd.nl] It is one of the most common forms of congenital muscular dystrophy (CMD).[musculardystrophyuk.org] Collagen VI deficiency in muscle or cultured fibroblasts was complete in the severe cases and partial in the milder ones, which suggests a correlation between the degree of[ncbi.nlm.nih.gov] Of the 8 and 5 muscle biopsy-confirmed cases of Ullrich congenital muscular dystrophy and dystrophinopathy, 6 Ullrich congenital muscular dystrophy and 5 dystrophinopathy[ncbi.nlm.nih.gov]

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  • Left Ventricular Aneurysm

    Due to the size of the aneurysm and development of an intramural thrombus, repair was performed after confirmation of bone marrow transplant engraftment.[ncbi.nlm.nih.gov] Duchenne muscular dystrophy (DMD) leads to structural heart disease, including dilated cardiomyopathy, in 90% of patients 18 years of age.[ncbi.nlm.nih.gov] Transthoracic echocardiography revealed a thrombus partially filling a giant pseudoaneurysm/aneurysm of the inferoposterior wall, causing significant deformation of the ventricular[elsevier.pt] Congenital apical left ventricular aneurysm is a rare clinical entity that is different from congenital left ventricular diverticulum.[ncbi.nlm.nih.gov] Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disease caused by deficiency of the lysosomal enzyme alpha-L-iduronidase.[ncbi.nlm.nih.gov] Different surgical techniques, each with its own advantages and disadvantages, have been used to reverse adverse left ventricular remodeling due to postinfarction left ventricular[ncbi.nlm.nih.gov] Transthoracic echocardiography showed a large muscular ventricular septal defect.[ncbi.nlm.nih.gov] In electrophysiological studies, it is often difficult to establish the relationship between clinical manifestations of cardiac arrhythmias and those of LVA/Ds due to anatomical[ncbi.nlm.nih.gov] Enhanced CT scan at level of heart shows large left ventricular aneurysm (red arrow) partially filled with clot (white arrows).[learningradiology.com]

    Missing: CYS862ARG LAMA2 TO
  • Isoproterenol

    A series of 12 patients with shock that followed bacteremia due to gram-negative pathogens is presented, and a case is reported.[ncbi.nlm.nih.gov] Duchenne muscular dystrophy (DMD) is caused by an X-linked mutation that leads to the absence of dystrophin, resulting in life-threatening arrhythmogenesis and associated[ncbi.nlm.nih.gov] Generally, in adenylyl cyclase assays, ISO, EPI, and NE were full agonists, and DOP was a partial agonist. At beta(2)AR-G(s)alpha(L), NE was only a partial agonist.[ncbi.nlm.nih.gov] Ebstein's anomaly is a rare congenital cardiac anomaly showing significant clinical manifestations with a high mortality rate in the neonatal period.[ncbi.nlm.nih.gov] And in vitro, HuR deficiency reversed the reduction of β-AR mRNA induced by ISO.[ncbi.nlm.nih.gov] In patients with AVRT due to a concealed AP, the absence of retrograde conduction of the AP in the baseline state has rarely been reported.[ncbi.nlm.nih.gov] […] mass hypertrophy in an in vivo mouse model and demonstrated the up-regulation of immediate early gene Myc, fetal gene Nppb, and fibrosis gene Lgals3 in ISO-treated Myh14 deficient[ncbi.nlm.nih.gov] It appears to be useful and safe for growing human limbal epithelial progenitors from limbal explants with no feeders before transplantation to patients with limbal deficiency[ncbi.nlm.nih.gov] The data also show that the false positive exercise test in this syndrome is due to progressively increasing pre-excitation and therefore more abnormal repolarization.[ncbi.nlm.nih.gov]

    Missing: CYS862ARG LAMA2 TO
  • Human Parvovirus B19

    We report two cases with characteristic presentation with a nephrotic syndrome due to parvovirus B19.[ncbi.nlm.nih.gov] Patients with Fukuyama-type congenital muscular dystrophy sometimes experience transient exacerbations of muscle weakness.[ncbi.nlm.nih.gov] Based on partial NS1 fragments, all isolates detected were classified as subgenotype 1A with a tendency to elicit genetically complex infections.[ncbi.nlm.nih.gov] Persons with HIV infection frequently present with anaemia from different causes, including use of antiretroviral therapy (typically zidovudine), iron deficiency, vitamin[ncbi.nlm.nih.gov] In this study, we report a case of aplastic crisis due to human parvovirus B19 infection in an adult patient with hereditary spherocytosis.[ncbi.nlm.nih.gov] Our case demonstrates that, rarely, it may be associated with the development of partial epilepsy.[ncbi.nlm.nih.gov] […] in suspected cases of congenital parvovirus infection.[ncbi.nlm.nih.gov] A laboratory analysis revealed anemia with iron deficiency and elevated human parvovirus B19 (B19V) immunoglobulin M.[ncbi.nlm.nih.gov] To genotype B19V strains, a semi-nested PCR for partial amplification of the capsid gene was performed and sequence analysis revealed that 31 sequences belonged to subgenotype[ncbi.nlm.nih.gov]

    Missing: CYS862ARG LAMA2 TO

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