Human (59 sources):
Absent muscle fiber emerin,
Achilles tendon contracture,
Arrhythmia,
Atrial fibrillation,
Atrioventricular block,
Back pain,
Bradycardia,
Chest pain,
Congestive heart failure,
Decreased cervical spine flexion due to contractures of posterior cervical muscles,
Dilated cardiomyopathy,
Dyskinesia,
EMG: myopathic abnormalities,
Elbow flexion contracture,
Elevated circulating creatine kinase concentration,
Gait disturbance,
Hyperlordosis,
Hypertriglyceridemia,
Hypertrophic cardiomyopathy,
Hypotonia,
Ichthyosis,
Increased LDL cholesterol concentration,
Joint stiffness,
Kyphosis,
Limb-girdle muscular dystrophy,
Lipodystrophy,
Muscular dystrophy,
Myopathy,
Myotonia,
Neck muscle weakness,
Obesity,
Palpitations,
Pectus excavatum,
Premature ventricular contraction,
Presyncope,
Prolonged QRS complex,
Proximal amyotrophy,
Proximal lower limb amyotrophy,
Proximal muscle weakness,
Proximal muscle weakness in lower limbs,
Proximal muscle weakness in upper limbs,
Proximal upper limb amyotrophy,
Ptosis,
Reduced tendon reflexes,
Respiratory insufficiency due to muscle weakness,
Right ventricular cardiomyopathy,
Rimmed vacuoles,
Scapular winging,
Scoliosis,
Spinal rigidity,
Sprengel anomaly,
Sudden cardiac death,
Supraventricular arrhythmia,
Type 1 muscle fiber atrophy,
Ventricular escape rhythm,
Ventricular tachycardia,
Vocal cord paralysis,
Waddling gait,
obsolete Toe walking
[+]
|
These phenotypes are associated with this gene with a has phenotype relation via Monarch.