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Traduction de «elevated serum creatine » (Anglais → Français) :

This syndrome is characterized by psychomotor delay and severe myopathy (hypotonia, absent tendon reflexes and delayed myelination) from birth, associated with hypermethioninemia and elevated serum creatine kinase levels. It has been described in thr

retard psychomoteur par déficit en S-adénosylhomocystéine hydrolase


A very rare secondary neonatal autoimmune disease characterised by generalised weakness, severe hypotonia, absent or reduced deep tendon reflexes and highly elevated serum creatine kinase levels presenting in the neonatal period. Perifascicular atrop

dermatomyosite néonatale


A rare metabolic myopathy with characteristics of muscle cramping and/or stiffness after exercise (especially during heat exposure), post-exertional rhabdomyolysis and myoglobinuria and elevation of serum creatine kinase. Caused by mutation in the SL

myopathie métabolique par défaut de transport du lactate




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Date index: 2023-04-14
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