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mutations in the DMPK gene and ZNF9(passive) caused byMyotonic dystrophy
mutations ( changes ) in either the DMPK gene ( in type 1 ) or the CNBP ( ZNF9 ) gene ( in type 2(passive) is caused byMyotonic dystrophy
AB - Expansion of a CTG trinucleotide repeat in the 3 ' UTR of the gene DMPK at the DM1 locus on chromosome 19causesmyotonic dystrophy
mutations ( changes ) in the DMPK gene or the CNBP ( ZNF9 ) gene depending on the specific type of myotonic dystrophy(passive) is caused byMyotonic dystrophy
Lauren N2 - Expansion of a CTG trinucleotide repeat in the 3 ' UTR of the gene DMPK at the DM1 locus on chromosome 19causesmyotonic dystrophy
an autosomal dominant gene mutation in the DMPK gene located on chromosome(passive) is almost always caused byMyotonic dystrophy
a mutation of the DMPK or ZNF9(passive) caused bymyotonic dystrophy
repeat expansion mutations such as thosecausemyotonic dystrophy
formation of the toxic RNA - protein interactioncausesmyotonic dystrophy
for example , the DM-1 genecausingmyotonic dystrophy
mutations in the DMPK gene Type 1 myotonic dystrophy results from a mutation in the DMPK gene known as a trinucleotide repeat expansion(passive) caused bymyotonic dystrophy
a specific genetic change ( mutation ) within the DMPK gene on chromosome 19(passive) is caused byMyotonic dystrophy
a defect in a gene on chromosome 19(passive) is caused byMyotonic dystrophy
a CTG nucleotide repeat on the DMPK gene resulting in a pathogenic RNA gain - of - function.[3(passive) is caused byMyotonic dystrophy
the expression of a toxic RNA , which is made up of greater than 100 expanded CUG repeats(passive) is caused byMyotonic dystrophy
the expansion of a CTG trinucleotide repeat that occurs in the 3 ’ untranslated region of the DMPK gene(passive) is caused byMyotonic dystrophy
expanded CTG repeats ( Cho et al . 2005(passive) caused bymyotonic dystrophy
an inherited gene defect , called a " triple repeat , " on chromosome 19(passive) is caused byMyotonic dystrophy
mutations called nucleotide repeat expansions in either the DMPK gene ( in type 1 ) or the CNBP gene ( in type 2(passive) is caused byMyotonic dystrophy
a new type of mutation , hollow coaxial feed lines , known as heliax(passive) is caused bymyotonic dystrophy
Implications for myotonic dystrophy — Oregon Health & Science University Todd R. Klesert , Diane H. Cho , John I. Clark , James Maylie , John Adelman , Lauren Snider , Eric C. Yuen , Philippe Soriano , Stephen J. Tapscott Expansion of a CTG trinucleotide repeat in the 3 ' UTR of the gene DMPK at the DM1 locus on chromosome 19causesmyotonic dystrophy
that disabled the RNAcausingmyotonic dystrophy
Almost always one parent will have carried an “ altered ” DMPK gene i.e. , carrying the expansion explained in the section “ The Sciencecausesmyotonic dystrophy
mutations in different genes(passive) are caused byMyotonic dystrophy
a defective gene(passive) is caused byMyotonic dystrophy
vivo activity of compounds targeting the pathogenic RNAscausemyotonic dystrophy
two different mutations : a ( CTG)n expansion in 3 ' UTR region of the DMPK gene ( DM1 ) and a ( CCTG)n expansion in intron 1 of the ZNF9 gene ( DM2(passive) is caused byMyotonic dystrophy
Mutations in the CNBP and DMPK genescausemyotonic dystrophy
autosomal dominant genetic mutations(passive) are caused byMyotonic dystrophy
a trinucleotide repeat expansion in the 3'-UTR of DMPK mRNA(passive) is caused byMyotonic dystrophy
heterozygosity for a trinucleotide repeat expansion mutation in the 3 ' untranslated region of a protein kinase gene ( DM kinase(passive) to be caused byMyotonic dystrophy
the molecular consequences of the genetic mutationcausesmyotonic dystrophy
A mutation in a gene called Dystrophia Myotonica Protein Kinasecausesmyotonic dystrophy
a mutation of a gene that is essential for normal muscle and body function(passive) is caused byMyotonic dystrophy
a mutation resulting in the expression of RNA having long repetitions of the CUG trinucleotides(passive) is caused byMyotonic dystrophy
Myotonin protein kinase ... the genecausesMyotonic dystrophy
an “ autosomonal dependent ” mutation on a chromosome that does not determine gender(passive) is caused byMyotonic dystrophy
a build - up of RNA inside the cell nucleus(passive) is caused byMyotonic dystrophy
an unusual genetic mutation in which a small DNA segment of the mutated gene is repeated hundreds of times(passive) is caused byMyotonic dystrophy
mutations in the cellular retinaldehyde - binding protein gene ( RLBP1 ) on chromosome 15q26."Burstedt M.S. , Sandgren O. , Holmgren G. , Forsman - Semb(passive) caused byiniRef.10"Bothnia dystrophy
muscle weakness accompanied by myotonia , a delayed relaxation of muscles after contraction.[en.wikibooks.orgcausesmuscle weakness accompanied by myotonia , a delayed relaxation of muscles after contraction.[en.wikibooks.org
cataracts , retinal degeneration , low IQ , frontal balding , skin disorders , atrophy of the testicles , insulin resistance and sleep apneamay causecataracts , retinal degeneration , low IQ , frontal balding , skin disorders , atrophy of the testicles , insulin resistance and sleep apnea
from loss of post - transcriptional regulation for CLCN1 John D. Lueck , Codrin Lungu , Ami Mankodi , Robert Osborne , Stephen Welle , Robert T. Dirksen , Charles A Thornton American Journal of Physiology - Cell Physiology Nov 2006 , DOI : 10.1152 / ajpcell.00336.2006 Permalinkresultingfrom loss of post - transcriptional regulation for CLCN1 John D. Lueck , Codrin Lungu , Ami Mankodi , Robert Osborne , Stephen Welle , Robert T. Dirksen , Charles A Thornton American Journal of Physiology - Cell Physiology Nov 2006 , DOI : 10.1152 / ajpcell.00336.2006 Permalink
from loss of post - transcriptional regulation for CLCN1 | Cell Physiology Skip to main content Chloride channelopathy in myotonic dystrophy resulting from loss of post - transcriptional regulation for CLCN1 John D. Lueck , Codrin Lungu , Ami Mankodi , Robert Osborne , Stephen Welle , Robert T. Dirksen , Charles A Thornton American Journal of Physiology - Cell Physiologyresultingfrom loss of post - transcriptional regulation for CLCN1 | Cell Physiology Skip to main content Chloride channelopathy in myotonic dystrophy resulting from loss of post - transcriptional regulation for CLCN1 John D. Lueck , Codrin Lungu , Ami Mankodi , Robert Osborne , Stephen Welle , Robert T. Dirksen , Charles A Thornton American Journal of Physiology - Cell Physiology
from loss of posttranscriptional regulation for CLCN1"Web of Scienceresultingfrom loss of posttranscriptional regulation for CLCN1"Web of Science
muscle weakness and wastingcausesmuscle weakness and wasting
the progression of muscle weakness(passive) caused bythe progression of muscle weakness
cataract in the lens but tissuecausescataract in the lens but tissue
Complications of Myotonic dystrophy , type 2(passive) are caused byComplications of Myotonic dystrophy , type 2
mental deficiency , hair loss and cataractscan causemental deficiency , hair loss and cataracts
muscle weakness , difficulty relaxing musclescausesmuscle weakness , difficulty relaxing muscles
from loss of posttranscriptional regulation for CLCN1 ” American Journal of Physiology - Cell Physiology Apr 2007 , 292 ( 4resultingfrom loss of posttranscriptional regulation for CLCN1 ” American Journal of Physiology - Cell Physiology Apr 2007 , 292 ( 4
from loss of posttranscriptional regulation for CLCN1 ” Thomas A. Cooper American Journal of Physiology - Cell Physiology Apr 2007resultingfrom loss of posttranscriptional regulation for CLCN1 ” Thomas A. Cooper American Journal of Physiology - Cell Physiology Apr 2007
from loss of posttranscriptional regulation for CLCN1.Lueck JD , Lungu C , Mankodi A , Osborne RJ , Welle SL , Dirksen RTresultingfrom loss of posttranscriptional regulation for CLCN1.Lueck JD , Lungu C , Mankodi A , Osborne RJ , Welle SL , Dirksen RT
from loss of posttranscriptional regulation for CLCN1 ” | Cell Physiology Skip to main content Regulation of chloride ion conductance during skeletal muscle development and in diseaseresultingfrom loss of posttranscriptional regulation for CLCN1 ” | Cell Physiology Skip to main content Regulation of chloride ion conductance during skeletal muscle development and in disease
from loss of post - transcriptional regulation for CLCN1 American Journal of Physiology - Cell Physiology Nov 2006 , DOI : 10.1152 / ajpcell.00336.2006 Citation Manager Formats BibTeXBookendsEasyBibEndNoteresultingfrom loss of post - transcriptional regulation for CLCN1 American Journal of Physiology - Cell Physiology Nov 2006 , DOI : 10.1152 / ajpcell.00336.2006 Citation Manager Formats BibTeXBookendsEasyBibEndNote
muscle weakness that slowly progresses and can affect any muscle in the body including organs such as the heartcausesmuscle weakness that slowly progresses and can affect any muscle in the body including organs such as the heart
nerve degeneration that leads to muscle weakness , muscle mass reduction , and improper muscle functioncausesnerve degeneration that leads to muscle weakness , muscle mass reduction , and improper muscle function
mental fatigue , daytime sleepiness , forgetfulness , confusion or “ brain fog ” , all related to altered brain activitycan causemental fatigue , daytime sleepiness , forgetfulness , confusion or “ brain fog ” , all related to altered brain activity
weakness and delayed muscle relaxation called myotoniacausesweakness and delayed muscle relaxation called myotonia
delayed muscle relaxation and weakness referred to as , ' Myotoniacausesdelayed muscle relaxation and weakness referred to as , ' Myotonia
to highly heterogeneousleadto highly heterogeneous
to weakness and wasting of voluntary musclesleadsto weakness and wasting of voluntary muscles
muscle stiffness ... with difficulty in relaxation called myotoniacausesmuscle stiffness ... with difficulty in relaxation called myotonia
progressive muscle wasting , myotonia , cataracts , and heart conductioncausingprogressive muscle wasting , myotonia , cataracts , and heart conduction
muscle wasting and potentially fatal heartbeat irregularitiescausesmuscle wasting and potentially fatal heartbeat irregularities
muscles to weaken , stiffen and waste over timecausesmuscles to weaken , stiffen and waste over time
like other forms of the conditioncauseslike other forms of the condition
muscle atrophy among other disorderscausesmuscle atrophy among other disorders
to multiple systemic complications related to weakness , respiratory failure , cardiac arrhythmias and cardiac conduction disturbancesleadsto multiple systemic complications related to weakness , respiratory failure , cardiac arrhythmias and cardiac conduction disturbances
muscle spasms , cataracts , and endocrine disturbancescausesmuscle spasms , cataracts , and endocrine disturbances
in CARDIAC IMPAIRMENT Cardiomyopathiesresultingin CARDIAC IMPAIRMENT Cardiomyopathies
to respiratory distress and deathleadsto respiratory distress and death
severe muscle rigidity , preventing respiration and intubationcausessevere muscle rigidity , preventing respiration and intubation
a wide range of symptoms which mostly affect musclescausesa wide range of symptoms which mostly affect muscles
weak , wasted legs and bilateral foot dropmay causeweak , wasted legs and bilateral foot drop
progressive muscle wasting and weaknesscausesprogressive muscle wasting and weakness
neuromuscular distress during and after pregnancycausingneuromuscular distress during and after pregnancy
progressive weakness in the body and organscausesprogressive weakness in the body and organs
alsocan ... causealso