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Full Text A defect in the RNA - processing protein HNRPDLcauseslimb - girdle muscular dystrophy
Zatz M. A defect in the RNA - processing protein HNRPDLcauseslimb - girdle muscular dystrophy
Molecular mechanisms in DM1 -- a focus on fociAbstractFulltextPDFA defect in the RNA - processing protein HNRPDLcauseslimb - girdle muscular dystrophy
mutations in the fukutin - related protein gene FKRP , which is also involved in congenital muscular dystrophy ( MDC1C).OBJECTIVE(passive) is caused byLimb - girdle muscular dystrophy 2I ( LGMD2I
a DNAJB6 mutation.2014(passive) caused bylimb girdle muscular dystrophy
2014 Recessive mutations in the ANO5 gene , encoding anoctamin 5causeproximal limb girdle muscular dystrophy ( LGMD2L
the known genescausinglimb girdle muscular dystrophy
1]"Mutations in the caveolin-3 genecauseautosomal dominant limb - girdle muscular dystrophy
1998 Mutations in the caveolin-3 genecauseautosomal dominant limb - girdle muscular dystrophy
F. Mutations in the caveolin-3 genecauseautosomal dominant limb - girdle muscular dystrophy
11935 Mutations in the caveolin-3 genecauseautosomal dominant limb - girdle muscular dystrophy
new gene defectscan causelimb - girdle muscular dystrophy
At least one TTN gene mutation has been foundto causelimb - girdle muscular dystrophy type 2J
loss of any of the four sarcoglycan proteinsleadsto limb - girdle muscular dystrophy
doi.org ] Mutations in the caveolin-3 genecauseautsomal dominant limb - girdle muscular dystrophy
defective α - dystroglycan ( α - DG ) glycosylation(passive) caused by01/01/2015 - " Limb Girdle Muscular Dystrophy ( LGMD
The most common mutation in FKRPcausinglimb girdle muscular dystrophy type
mutations in the encoding genescausecongenital / limb - girdle muscular dystrophies
mutations in three of these genescauselimb - girdle muscular dystrophy
RMD2)12 Publications " Mutations in the caveolin-3 genecauseautosomal dominant limb - girdle muscular dystrophy
the sarcoglycans ( mutations in whichcauselimb - girdle muscular dystrophies
Mutations in the dysferlin genealso causelimb - girdle muscular dystrophy ( LGMD2B
mutations in the SGCG gene(passive) caused bylimb - girdle muscular dystrophy
Dysferlin gene mutationscauselimb - girdle muscular dystrophy
mutations in the SGCD gene(passive) caused bylimb - girdle muscular dystrophy
mutations in the CAPN3 gene(passive) caused bylimb - girdle muscular dystrophy
sarcoglycan gene mutations(passive) caused bylimb - girdle muscular dystrophy
mutations in the TTN gene(passive) caused bylimb - girdle muscular dystrophy
mutations in the SGCA gene(passive) caused bylimb - girdle muscular dystrophy
mutations in the DYSF gene(passive) caused bylimb - girdle muscular dystrophy
dysferlin protein deficiency , a condition that Jain ’s son has(passive) caused bylimb - girdle muscular dystrophies
abnormal glycosylation of alpha - dystroglycancan resultin limb - girdle muscular dystrophy
mutations of at least 15 different genes which are responsible for making proteins required for adequate functioning of muscles of the body , especially the hip and shoulders(passive) is caused byLimb - girdle musculard dystrophy
a microdeletion in the transportin 3 gene | Orphanet Journal of Rare Diseases(passive) is caused byLimb - girdle muscular dystrophy 1F
Ilka Schneider , Gisela Stoltenburg , Marcus Deschauer , Martin Winterholler , Frank Hanisch Recessive mutations in the ANO5 gene , encoding anoctamin 5causeproximal limb girdle muscular dystrophy
research into identification of gene mutationscan causelimb - girdle muscular dystrophy ( LGMD
Mutations in the caveloin-3 genecauseautosomal dominant limb - girdle muscular dystrophy
Minetti C. , Sotgia F. , Bruno C. Mutations in the caveolin-3 genecauseautosomal dominant limb - girdle muscular dystrophy
Genetic mutations appearto causelimb - girdle muscular dystrophy
insulin productionand mutationscauselimb - girdle muscular dystrophy
weakness and wasting of the muscles in the arms and legs the muscles most affected are those closest to the body ( proximal musclescauseweakness and wasting of the muscles in the arms and legs the muscles most affected are those closest to the body ( proximal muscles
from defective glycosylation of alpha - dystroglycan ( DAG1 ; 128239resultingfrom defective glycosylation of alpha - dystroglycan ( DAG1 ; 128239
the gradual deterioration of muscles from her chin downcausesthe gradual deterioration of muscles from her chin down
serious heart problems.[webmd.comcan causeserious heart problems.[webmd.com
weakness in the hips or shoulderscauseweakness in the hips or shoulders
to extreme weakness in the voluntary musclesleadsto extreme weakness in the voluntary muscles
weakness in the shoulder and pelvic girdlegenerally causesweakness in the shoulder and pelvic girdle
weakness in the arm and leg areascausesweakness in the arm and leg areas
weakness and wasting in the arm and leg musclescauseweakness and wasting in the arm and leg muscles
muscle weakness in the upper arms and legscausesmuscle weakness in the upper arms and legs
muscle weakness and wasting in the arms and legscausemuscle weakness and wasting in the arms and legs
wasting and weakness of the muscles around the shoulders and hips with autosomal pattern of inheritancecausewasting and weakness of the muscles around the shoulders and hips with autosomal pattern of inheritance
weakness of the muscles that control movements at the shoulders and hipscauseweakness of the muscles that control movements at the shoulders and hips
weakness and atrophy of the muscles around the shoulders and hipscausesweakness and atrophy of the muscles around the shoulders and hips
weakness and wasting of the proximal muscles in the arms and legscauseweakness and wasting of the proximal muscles in the arms and legs
weakness and wasting of the muscles around the shoulders and hipscauseweakness and wasting of the muscles around the shoulders and hips
weakness and loss of the muscle mass in the legs and armscauseweakness and loss of the muscle mass in the legs and arms
weakness in proximal muscles , which makes walking difficult and can be disablingprimarily causesweakness in proximal muscles , which makes walking difficult and can be disabling
progressive weakness that begins in the hips and moves to the shoulders , arms , and legscausesprogressive weakness that begins in the hips and moves to the shoulders , arms , and legs
muscle weakness ... generally in the muscles located closest to the body such as the pelvis and shoulderscausesmuscle weakness ... generally in the muscles located closest to the body such as the pelvis and shoulders
weakness and breakdown ( atrophy ) of the pelvic , hip , thigh , shoulder , and upper arm musclescausesweakness and breakdown ( atrophy ) of the pelvic , hip , thigh , shoulder , and upper arm muscles
symptoms muscular dystrophy stock royalty free cure duchenne cares frequently asked questions muscular dystrophy causes symptoms diagnoses changecausessymptoms muscular dystrophy stock royalty free cure duchenne cares frequently asked questions muscular dystrophy causes symptoms diagnoses change
from genetic mutations affecting the proteins required for muscle function including the proteins associated with sarcolemma and contractilityresultsfrom genetic mutations affecting the proteins required for muscle function including the proteins associated with sarcolemma and contractility
muscles , particularly of the shoulders , hips and thighs , to weaken and waste over time , leading to increasing disabilitycausesmuscles , particularly of the shoulders , hips and thighs , to weaken and waste over time , leading to increasing disability
Type 2BcausesType 2B
from the severity of the mutation on enzyme expression , stability , localization , and/or activity ( Wells , 2013 ; Stalnaker et al . , 2011 ; Muntoni et al . , 2011presumably resultingfrom the severity of the mutation on enzyme expression , stability , localization , and/or activity ( Wells , 2013 ; Stalnaker et al . , 2011 ; Muntoni et al . , 2011
to wheelchair confinementleading eventuallyto wheelchair confinement
from mutation of multiple genetic loci including the p94 calpain , adhalin , γ - sarcoglycan , and β - sarcoglycan lociresultsfrom mutation of multiple genetic loci including the p94 calpain , adhalin , γ - sarcoglycan , and β - sarcoglycan loci
from mutation of multiple genetic loci including the p94 calpain , adhalin , y - sarcoglycanresultsfrom mutation of multiple genetic loci including the p94 calpain , adhalin , y - sarcoglycan
degeneration of the large muscles attached to the hips and shoulderscausesdegeneration of the large muscles attached to the hips and shoulders
the back muscle mass consisting of both the hips and shouldersinfluencesthe back muscle mass consisting of both the hips and shoulders
rapid degeneration of the large muscles attached to the shoulders and hipscausesrapid degeneration of the large muscles attached to the shoulders and hips
from mutations in β - sarcoglycan ( SGCBresultingfrom mutations in β - sarcoglycan ( SGCB
abnormal muscle developmentcausesabnormal muscle development
a progressive loss of muscle function and often an early death from heart or lung problemscausesa progressive loss of muscle function and often an early death from heart or lung problems
the normal glycosylation of α - dystroglycanpreventthe normal glycosylation of α - dystroglycan
chronic pain & fatigue(passive) caused bychronic pain & fatigue
the back muscles featuring both the pelvis as well as shouldersinfluencesthe back muscles featuring both the pelvis as well as shoulders
from sarcoglycan deficiencyresultingfrom sarcoglycan deficiency
the front of the foot to drag while walking , which causes frequent trippingoften causesthe front of the foot to drag while walking , which causes frequent tripping