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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
by mutations in the RPE65 gene(passive) caused byretinal dystrophy
the CTG repeat expansion in the DMPK genecausingmyotonic dystrophy
confirmed biallelic RPE65 mutations(passive) caused byinherited dystrophy
a biallelic RPE65 mutation(passive) caused byretinal dystrophy
by a defective RPE65 gene(passive) is caused byretinal 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 mutations in the(passive) caused byretinal dystrophy
any genecausingretinal dystrophy
autosomal dominant mutationscausingretinal dystrophy
by expansion of a trinucleotide repeat downstream of the * DMPK * gene(passive) caused bymyotonic dystrophy
knownto causeretinal 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
more than 200 genescan causeretinal dystrophy
conditions that are more commoncauseRetinal Dystrophy
CRB1 gene mutations(passive) caused byretinal 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
by secondary hypogonadism originating from decreased levels in GnRH(passive) may be caused bydystrophy Adiposogenital 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
genetic variantscausingretinal dystrophy
by mutations in the ATP - binding cassette(passive) caused byl dystrophy
the expansion of a CTG repeat sequence(passive) is caused byMyotonic dystrophy
by CERKL or CRB1(passive) caused byretinal dystrophy
CERKL or CRB1(passive) caused byretinal 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
tissue weakeningcausingtissue weakening
tissue weakening causingtissue weakening
tissue weakening causingtissue weakening
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
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
to renal failurecan leadto renal failure
progressive sight losscausesprogressive sight loss
her lose most of her eyesightdesignedher lose most of her eyesight
a dysfunction in the photoreceptors and other neurons in the retina and leads to irreversible blindness if left untreated [ 2,4causesa dysfunction in the photoreceptors and other neurons in the retina and leads to irreversible blindness if left untreated [ 2,4
from defective genesresultsfrom defective genes
painful corneal ulcerationscausespainful corneal ulcerations
recurrent corneal erosion ( middlecan causerecurrent corneal erosion ( middle
symptoms or reduces visioncausessymptoms or reduces vision
reduces visioncausesreduces vision
alsocausedalso
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
him to lose mobilitycausedhim to lose mobility
in 24 hourscan causein 24 hours
cataractsmay causecataracts
difficultiescan causedifficulties
difficulties withcan causedifficulties with
alsocan ... causealso
in 1992was discoveredin 1992
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
failing health(passive) caused byfailing health