|
gptkbp:instance_of
|
gptkb:muscular_dystrophy
|
|
gptkbp:advocacy
|
active
|
|
gptkbp:affects
|
proximal muscles
|
|
gptkbp:associated_with
|
fatigue
muscle weakness
scoliosis
cardiac issues
joint issues
|
|
gptkbp:breeding_range
|
chromosome X
|
|
gptkbp:caused_by
|
dystrophin deficiency
|
|
gptkbp:clinical_trial
|
ongoing
encouraged
various phases
gait abnormalities
|
|
gptkbp:collaborations
|
international
|
|
gptkbp:community_involvement
|
increasing
|
|
gptkbp:complications
|
respiratory issues
|
|
gptkbp:diagnosis
|
genetic testing
clinical evaluation
variable outcomes
|
|
gptkbp:disease_management
|
ongoing care
|
|
gptkbp:diseases
|
other types of muscular dystrophy
|
|
gptkbp:educational_resources
|
available online
|
|
gptkbp:exercise_recommendations
|
tailored programs
|
|
gptkbp:family
|
often present
|
|
gptkbp:first_described_by
|
1990s
|
|
gptkbp:funding
|
available
|
|
gptkbp:genetic_counseling_importance
|
high
|
|
gptkbp:genetic_studies
|
recommended
widely available
|
|
gptkbp:genetic_variants
|
identified
|
|
https://www.w3.org/2000/01/rdf-schema#label
|
LGMD2 B
|
|
gptkbp:impact
|
varies by individual
|
|
gptkbp:inherits_from
|
autosomal recessive
|
|
gptkbp:is_involved_in
|
available
|
|
gptkbp:is_tested_for
|
elevated creatine kinase
|
|
gptkbp:muscle_biopsy_findings
|
myopathic changes
|
|
gptkbp:onset_age
|
childhood to early adulthood
|
|
gptkbp:pathway
|
muscle fiber degeneration
|
|
gptkbp:patient_education
|
crucial
|
|
gptkbp:patient_population
|
all ethnicities
|
|
gptkbp:patient_quality_of_life
|
affected
|
|
gptkbp:player_development
|
variable
|
|
gptkbp:prevalence
|
rare
|
|
gptkbp:promoter
|
DMD
|
|
gptkbp:provides_guidance_on
|
developed
|
|
gptkbp:publication
|
numerous
|
|
gptkbp:related_to
|
gptkb:LGMD2_A
|
|
gptkbp:research_focus
|
gptkb:gene_therapy
|
|
gptkbp:research_institutes
|
various universities
|
|
gptkbp:symptoms
|
varies by individual
multidisciplinary approach
muscle wasting
|
|
gptkbp:treatment
|
ongoing
physical therapy
|
|
gptkbp:treatment_research_focus
|
dystrophin restoration
|
|
gptkbp:bfsParent
|
gptkb:muscular_dystrophy
|
|
gptkbp:bfsLayer
|
5
|