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Mutations in cornea - specific keratin K3 or K12 genescauseMeesmann 's corneaw dystrophy
A novel mutation in the RDS / peripherin genecausesadult?onset foveomacular dystrophy
by mutations in the VMD2 gene(passive) can be caused byMultifocal vitelliform dystrophy
mutations in the VMD2 gene(passive) can be caused byMultifocal vitelliform 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
the CTG repeat expansion in the DMPK genecausingmyotonic dystrophy
a defective gene for the muscle protein known as(passive) is caused byDuchenne dystrophy
mutations ( changes ) in the DMPK gene or the CNBP ( ZNF9 ) gene(passive) is caused byMyotonic dystrophy
expansion of a CTG repeat that is located in the 3 ' untranslated region of a gene(passive) is caused byMyotonic dystrophy
by expansion of a trinucleotide repeat downstream of the * DMPK * gene(passive) caused bymyotonic 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
by secondary hypogonadism originating from decreased levels in GnRH(passive) may be caused bydystrophy Adiposogenital dystrophy
by secondary hypogonadism originating from decreased levels in GnRH(passive) may be caused byAdiposogenital dystrophy
secondary hypogonadism originating from decreased levels in GnRH(passive) may be caused byAdiposogenital dystrophy
CTG repeats within a noncoding region of the Dmpk gene(passive) is caused by Myotonic dystrophy
mutations ( changes ) in either the DMPK gene(passive) is caused byMyotonic dystrophy
by expansion of a CTG repeat in the untranslated region(passive) is causedmyotonic dystrophy
Mutations in the DMPK and ZNF9 genescausemyotonic dystrophy
the expansion of a CTG repeat in the 5-prime non - translated region of a protein kinase gene , the dystrophia myotonia protein kinase ( DMPK ) gene(passive) is caused byMyotonic dystrophy
the expansion of a CTG repeat sequence(passive) is caused byMyotonic dystrophy
a novel mutation in ELOVL4causingmacular dystrophy
a mutation of the gene that encodes dystrophin(passive) is caused byDuchenne dystrophy
a myotonic dystrophy gene(passive) is caused byMyotonic Dystrophy
a trinucleotide repeat expansion in the 3'-UTR of DMPK(passive) is caused byMyotonic dystrophy
the DMPK genecausingmyotonic dystrophy
DMPK ) genecausesmyotonic dystrophy
Mutations in the CNBP and DMPK genescausemyotonic dystrophy
the triplet repeat expansioncausesmyotonic dystrophy
by an unstable CTG repeat(passive) is causedmyotonic dystrophy
the mutation , or change , in the genecausesmyotonic dystrophy
by the expansion of a trinucleotide repeat(passive) is caused bymyotonic dystrophy
by the expansion of a trinucleotide repeat(passive) is causedmyotonic dystrophy
a specific genetic change ( mutation ) within the DMPK gene on chromosome 19(passive) is caused byMyotonic dystrophy
by an untranslated CTG expansion(passive) to be caused byMyotonic dystrophy
by novel PEX6 gene variants(passive) caused bymacular dystrophy
expansion of a CTG trinucleotide repeat on human chromosome 19(passive) is caused byMyotonic dystrophy
gene mutationscauseDuchenne dystrophy
a trinucleotide repeat expansion in the 3'-UTR of DMPK mRNA(passive) is caused byMyotonic dystrophy
Expansions in RNAcausemyotonic dystrophy
myotonic mutationscausingmyotonic dystrophy
progressive reduction or deterioration of vision which eventually can result in complete blindnesscausesprogressive reduction or deterioration of vision which eventually can result in complete blindness
to extreme eye paincan leadto extreme eye pain
the blindness(passive) caused bythe blindness
blindness(passive) caused byblindness
reduced or deteriorating vision in both eyescausesreduced or deteriorating vision in both eyes
vision loss and retinal atrophy in each eyecausingvision loss and retinal atrophy in each eye
in progressive decrease in visual acuity and difficulties with night vision in the first decade of liferesultingin progressive decrease in visual acuity and difficulties with night vision in the first decade of life
a fatty yellow pigment ( [ [ lipofuscin ] ] ) to build up in cells underlying the maculacausesa fatty yellow pigment ( [ [ lipofuscin ] ] ) to build up in cells underlying the macula
a fatty yellow pigment ( lipofuscin ... to build up in cells underlying the maculacausesa fatty yellow pigment ( lipofuscin ... to build up in cells underlying the macula
to renal failurecan leadto renal failure
to a deterioration in Drane's eyesight , which eventually impacted on Drane's workledto a deterioration in Drane's eyesight , which eventually impacted on Drane's work
progressive sight losscausesprogressive sight loss
her lose most of her eyesightdesignedher lose most of her eyesight
from defective genesresultsfrom defective genes
painful corneal ulcerationscausespainful corneal ulcerations
recurrent corneal erosion ( middlecan causerecurrent corneal erosion ( middle
to bullous keratopathycan leadto bullous keratopathy
symptoms or reduces visioncausessymptoms or reduces vision
reduces visioncausesreduces vision
shallow painful erosions / ulcerationscausesshallow painful erosions / ulcerations
a fatty yellow pigment ( lipofuscin ) to build up in the RPE layer , forming a lesion that has the appearance of an egg yolkcausesa fatty yellow pigment ( lipofuscin ) to build up in the RPE layer , forming a lesion that has the appearance of an egg yolk
progressive muscle wasting , myotonia , cataracts , and heart conductioncausingprogressive muscle wasting , myotonia , cataracts , and heart conduction
weakness and stiffness of musclescausesweakness and stiffness of muscles
progressive muscle wasting and weaknesscausesprogressive muscle wasting and weakness
in 24 hourscan causein 24 hours
cataractsmay causecataracts
difficulties withcan causedifficulties with
difficultiescan causedifficulties
to the features of this disordermay contributeto the features of this disorder
in 1992was discoveredin 1992
alsocan ... causealso
muscle weakness and stiffnesscausesmuscle weakness and stiffness
muscle weakness and stiffnesscausesmuscle weakness and stiffness
from the expansion ofresultsfrom the expansion of
1 andresults1 and
nerve degeneration that leads tocausesnerve degeneration that leads to
to constipationmay also leadto constipation
the clear layer ( cornea ) on the front of your eye to swellcausesthe clear layer ( cornea ) on the front of your eye to swell
endothelial cells in the cornea to deterioratecausesendothelial cells in the cornea to deteriorate
the main problem areas(passive) caused bythe main problem areas