Keyphrases
Myopathic
100%
Truncating Variant
100%
FGD1
100%
Aarskog-Scott Syndrome
100%
All-male
33%
Muscle Biopsy
33%
Myopathy
33%
Hemizygous
33%
Pathogenic Variants
16%
Cause of Disease
16%
Mitochondrial DNA
16%
Developmental Disorders
16%
Affected Siblings
16%
Genital Malformation
16%
Abnormal muscle Response
16%
Female Carrier
16%
Intellectual Disability
16%
Lower Respiratory
16%
Dysmorphic Features
16%
Adult Case
16%
Neuromuscular Fatigue
16%
Behavior Problems
16%
Histological Abnormalities
16%
Exercise Intolerance
16%
Muscular Exercise
16%
Respiratory Chain Activity
16%
Mitochondrial Enzyme Activity
16%
Variable Features
16%
Skeletal Anomalies
16%
Multiple Deletions
16%
Neuroscience
Muscle Disorder
100%
Mitochondrial DNA
50%
Enzyme Activity
50%
Electron Transport Chain
50%
Mitochondrial Enzyme
50%
Biochemistry, Genetics and Molecular Biology
Scott Syndrome
100%
Enzyme Activity
16%
Electron Transport Chain
16%
Intellectual Disability
16%
Muscle Fatigue
16%
Muscle Exercise
16%