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.

Subject headings

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

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

Keyword

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

Publication and Content Type

ref (subject category)

art (subject category)