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3,696 Possible Causes for ARG2383TER, CONGENITAL,, DEFICIENCY,, DUE, DYSTROPHY,, LAMA2, MUSCULAR, PARTIAL, TO

  • Congenital Muscular Dystrophy

    OBJECTIVES: 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] dystrophy).[ghr.nlm.nih.gov] 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] Abstract A new form of congenital muscular dystrophy (CMD) with multisystem involvement and characteristic mitochondrial structural changes, due to choline kinase beta (CHKB[ncbi.nlm.nih.gov] The Col6a1 GT/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] Abstract 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[ncbi.nlm.nih.gov] Merosin is also expressed in the nervous system and its deficiency could affect development of the nervous system.[ncbi.nlm.nih.gov]

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  • Congenital Merosin-Positive Muscular Dystrophy

    HGNC Symbols for LAMA2 Gene Previous GeneCards Identifiers for LAMA2 Gene GC06P129051 GC06P129184 GC06P129246 GC06P126785 Laminin, an extracellular protein, is a major component[genecards.org] Neonatal hypotonia Low muscle tone, in neonatal onset 0001319 Proximal muscle weakness Weakness in muscles of upper arms and upper legs 0003701 Respiratory insufficiency due[rarediseases.info.nih.gov] […] form of congenital muscular dystrophy.[ncbi.nlm.nih.gov] On the other hand, a benign muscle involvement and normal VEP findings seem to distinguish CMD patients with partial merosin deficiency from those with complete deficiency[karger.com] Abstract The clinical features of merosin-positive congenital muscular dystrophy (CMD) and merosin-deficient CMD are well known, with those of merosin-deficient CMD being[ncbi.nlm.nih.gov] We report a family of healthy non-consanguineous parents, with four affected siblings, of which one died at the age of 7 months due to an intercurrent illness, who presented[discovery.ucl.ac.uk] Your access to the NCBI website at www.ncbi.nlm.nih.gov has been temporarily blocked due to a possible misuse/abuse situation involving your site.[ncbi.nlm.nih.gov] Laminin alpha-2 (LAMA2)-related muscular dystrophy (LAMA2-MD, Merosin Deficient CMD) is a form of congenital muscular dystrophy (CMD).[clinicaltrials.gov] Abstract The congenital muscular dystrophies (CMD) are a heterogeneous group of autosomal recessive disorders, which present within the first 6 months of life with hypotonia[ncbi.nlm.nih.gov]

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  • Congenital Muscular Dystrophy Type 1A

    Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.[cbs.rnrt.tn] Abstract Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is the most common form of congenital muscular dystrophy.[ncbi.nlm.nih.gov] The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies.[books.google.es] However, the degree of merosin expression ranges from total absence to partial… CONTINUE READING[semanticscholar.org] HGNC Symbols for LAMA2 Gene Previous GeneCards Identifiers for LAMA2 Gene GC06P129051 GC06P129184 GC06P129246 GC06P126785 Laminin, an extracellular protein, is a major component[genecards.org] Feeding difficulties due to decreased suck and swallow can result in recurrent aspiration and poor nutrition.[egl-eurofins.com] We also believe that downregulation of Integrin-αV could be partially responsible for Losartan's antifibrotic effect and therefore could serve as a novel therapeutic target[content.iospress.com] Congenital muscular dystrophy with partial laminin α2 deficiency. A molecular study. Hum Mutat. 2003;21:103–11. PubMed CrossRef Google Scholar 5.[link.springer.com] 2(merosin)-deficient congenital muscular dystrophy (MDC1A) afflicts 4 in 500,000 children and causes premature death.[grantome.com]

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  • Congenital Muscular Dystrophy with Integrin Alpha-7 Deficiency

    LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.[ncbi.nlm.nih.gov] Acronym MDCI Synonyms Congenital myopathy due to integrin alpha-7 deficiency Keywords Disclaimer Any medical or genetic information present in this entry is provided for research[uniprot.org] Homepage Rare diseases Search Search for a rare disease Congenital muscular dystrophy with integrin alpha-7 deficiency Disease definition Congenital muscular dystrophy with[orpha.net] الصفحة 382 - All Nature is but art, unknown to thee All chance, direction, which thou canst not see; All discord, harmony not understood; All partial evil, universal good:[books.google.com] Name Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Synonyms MYOPATHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY Classification genetic, neurological[mousephenotype.org] Afterwards, he developed severe pharmacoresistant partial-onset epilepsy with up to 30 partial seizures per day.[content.iospress.com] More Symptoms of Muscular dystrophy, congenital, due to integrin alpha-7 deficiency » • • • Back to: « Muscular dystrophy Genetics of Muscular dystrophy, congenital, due to[familydiagnosis.com] Muscle biopsy showed changes consistent with congenital myopathy.[link.springer.com] The main CMD subtypes, grouped by involved protein function and gene in which causative allelic variants occur, are laminin alpha-2 (merosin) deficiency (MDC1A), collagen[ncbi.nlm.nih.gov]

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  • Congenital Muscular Dystrophy Type 1D

    Gene sequencing demonstrated a heterozygous frame-shift mutation in the LAMA2 gene, consisting of an AG deletion at nucleotides 2049-2050 (LAMA2 c.2049_2050delAG).[spandidos-publications.com] We report further a family with MDC1D due to a complex genomic rearrangement that was not apparent on standard sequencing of LARGE.[ncbi.nlm.nih.gov] Entry H01962 Disease Name Congenital muscular dystrophy type 1D Supergrp Muscular dystrophy-dystroglycanopathy type B [DS: H01960 ] Congenital muscular dystrophies (CMD/MDC[genome.jp] However, the degree of merosin expression ranges from total absence to partial reduction.[yonsei.pure.elsevier.com] Congenital muscular dystrophy with partial laminin α2 deficiency. A molecular study. Hum Mutat. 2003;21:103–11. PubMed CrossRef Google Scholar 5.[link.springer.com] Although less common, some affected children only have a partial deficiency of merosin. The severity of partial merosin deficiency varies greatly and can be much milder.[rarediseases.org] […] 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] […] myotonic dystrophy oculopharangeal muscular dystrophy Emery-Dreifuss muscular dystrophy.[betterhealth.vic.gov.au] […] thumbs (nesprin-related congenital muscular dystrophy), megaconial congenital muscular dystrophy ( CHKB -related congenital muscular dystrophy), congenital muscular dystrophy[medlink.com]

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  • Congenital Muscular Dystrophy Type Ullrich

    […] 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] 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] OBJECTIVES: To describe genetic and clinical features of Ullrich congenital muscular dystrophy (UCMD), and to report the case of a patient diagnosed with UCMD after an exhaustive[ncbi.nlm.nih.gov] It is one of the most common forms of congenital muscular dystrophy (CMD).[musculardystrophyuk.org] 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] Most cases are due to new mutations in the gene and occur in people with no history of disease in your family.[ivami.com] 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] External links Wikipedia : entry on Ullrich Congenital Muscular Dystrophy Google Images : search result for "Ullrich Congenital Muscular Dystrophy" Last updated: 23/04/17[genetics4medics.com]

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  • Congenital Muscular Dystrophy Type 1C

    Muscle biopsies showed a severe decrease in alpha-dystroglycan and a mild secondary reduction in the laminin-alpha-2 chain (LAMA2).[link.springer.com] […] sclerosis Autosomal dominant Charcot-Marie-Tooth disease type 2A1 Autosomal dominant limb-girdle muscular dystrophy type 1E Autosomal recessive limb-girdle muscular dystrophy due[csbg.cnb.csic.es] Animal studies indicate that restoring expression of a functioning FKRP stabilizes muscle structure, prevents future degeneration and partially restores muscle function and[aavogen.com] In general, CMD subtypes with primary or secondary merosin deficiency, including dystroglycanopathies, show high serum CK concentrations, while those with no merosin deficiency[spandidos-publications.com] Although less common, some affected children only have a partial deficiency of merosin. The severity of partial merosin deficiency varies greatly and can be much milder.[rarediseases.org] To Partial LAMA2 Deficiency, Included MDC1A 607855 Genetic Test Registry Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency Myopathy, Congenital, Due To Integrin[ukgtn.nhs.uk] Chapter First Online: 06 October 2017 Abstract MDC1C is a form of congenital muscular dystrophy with mental retardation and structural brain abnormalities and belongs to a[link.springer.com] […] distinct forms have been found; MDC1A (congenital muscular dystrophy type 1A, OMIM 607855 ), the most common form of CMD (40% of cases), maps to chromosome 6q22-q23 and is due[dmd.nl] Immunohistochemical analysis indicated partial merosin deficiency and very low alpha-dytroglycan levels in the only two samples taken.[cags.org.ae]

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  • Congenital Muscular Dystrophy due to LMNA Mutation

    Genes tested B3GALNT2 B4GAT1 CHKB COL12A1 COL6A1 COL6A2 COL6A3 DAG1 DMD DPM1 DPM2 DPM3 FKRP FKTN GMPPB ISPD ITGA7 LAMA2 LARGE1 LMNA POMGNT1 POMGNT2 POMK POMT1 POMT2 RXYLT1[invitae.com] Disease Ontology Browser congenital muscular dystrophy due to LMNA mutation ( DOID:0110640 ) Alliance: disease page Synonyms: congenital muscular dystrophy LMNA-related; L-CMD[informatics.jax.org] Lamin A/C congenital muscular dystrophy (CMD) (L-CMD, congenital muscular dystrophy associated to the LMNA gene or Emery-Dreifuss muscular dystrophy II) is a disease that[en.wikipedia.org] […] lipodystrophy, Dunnigan type Familial partial lipodystrophy, Köbberling type Heart-hand syndrome, Slovenian type Hutchinson-Gilford progeria syndrome LMNA-related cardiocutaneous[csbg.cnb.csic.es] In fact, it has been shown that single gene mutations can affect both muscles and nerves, such as in LAMA2 deficiency (mutation of laminin α2 gene), mitochondrial disorders[jnnp.bmj.com] In addition, a connection between acquired partial lipodystrophy and MPGN is recognized ( 20 ).[edmcasereports.com] Entry H00590 Disease Name Congenital muscular dystrophies (CMD/MDC) Subgroup Collagen VI related myopathies [DS: H01341 ] Merosin-deficient CMD (MDC1A) [DS: H01958 ] Muscular[genome.jp] The main CMD subtypes, grouped by involved protein function and gene in which causative allelic variants occur, are laminin alpha-2 (merosin) deficiency (MDC1A), collagen[ncbi.nlm.nih.gov] […] dystrophy, autosomal recessive (LMNA) Oculopharyngeal muscular dystrophy (PABPN1) CONGENITAL MUSCULAR DYSTROPHIES Muscular dystrophy, congenital, merosin-deficient, 1A (LAMA2[meduniwien.ac.at]

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  • Limb-Girdle Muscular Dystrophy

    We report 2 brothers who presented in adulthood with LGMD due to novel mutations in LAMA2 identified by whole exome sequencing (WES).[ncbi.nlm.nih.gov] Abstract Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy,[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] KEYWORDS: Congenital myasthenic syndrome; GMPPB; Limb girdle muscular dystrophy; Muscle MRI; Mutation hotspot[ncbi.nlm.nih.gov] […] lower limb muscle impairment with gluteus and truncal muscle involvement and the detection of rimmed vacuoles on a muscle biopsy could be clues for the diagnosis of LGMD due[ncbi.nlm.nih.gov] Cardiac arrhythmias are mostly seen in LGMD 1B and 1E types of muscle dystrophy.[symptoma.com] Making sense of the limb-girdle muscular dystrophies.[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]

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  • Bethlem Myopathy

    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] Due to slow but ongoing progression, more than two-thirds of patients over 50 years of age use a wheelchair.[ncbi.nlm.nih.gov] Abstract We report a study, assessing involvement of the heart in 33 familial cases of Becker muscular dystrophy (BMD), 31 familiar cases of facioscapulohumeral (FSH) dystrophy[ncbi.nlm.nih.gov] The Handbook of Clinical Neurology Vol 101: Muscular Dystrophies discusses the pathogenesis and treatment prospects for muscular dystrophies.[books.google.com] Muscle biopsies from UCMD patients do often show complete or partial absence of collagen VI immunolabelling, so this can be very useful diagnostically (fig 4B).[dx.doi.org] Normal expression of all proteins was found except for laminin beta 1, along with an age related progressive deficiency of this protein in the muscle fibre basal lamina.[ncbi.nlm.nih.gov] Ullrich congenital muscular dystrophy (UCMD), due to mutations in the collagen VI genes, is an autosomal recessive form of CMD, commonly associated with distal joints hyperlaxity[ncbi.nlm.nih.gov] Congenital hypotonia . . . X X X . X X . X . . X . X . . . . . . . Congenital contractures . . . X X X X X X . X X X X . . . . . . . . . Congenital torticollis X . . .[dx.doi.org] KEYWORDS: Bethlem disease; Ulrich disease; collagen VI deficiency; muscle MRI; muscle dystrophy[ncbi.nlm.nih.gov]

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