SPP1 genotype is a determinant of disease severity in Duchenne muscular dystrophy.

• Duchenne muscular dystrophy (DMD) is the most common single-gene lethal disorder. Substantial patient-patient variability in disease onset and progression and response to glucocorticoids is seen, suggesting genetic or environmental modifiers.

Ämnesord

MEDICIN OCH HÄLSOVETENSKAP  -- Klinisk medicin -- Pediatrik (hsv//swe)

MEDICAL AND HEALTH SCIENCES  -- Clinical Medicine -- Pediatrics (hsv//eng)

Nyckelord

Child

Child

Preschool

Cross-Sectional Studies

Disease Progression

Female

Genotype

Glucocorticoids

administration & dosage

Humans

International Cooperation

Italy

Kaplan-Meier Estimate

Male

Muscular Dystrophy

Duchenne

genetics

pathology

physiopathology

Odds Ratio

Osteopontin

genetics

Polymorphism

Single Nucleotide

Predictive Value of Tests

Reverse Transcriptase Polymerase Chain Reaction

Severity of Illness Index

Publikations- och innehållstyp

ref (ämneskategori)

art (ämneskategori)