Browsing by Publisher "Galenos"
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A novel frameshift mutation in two siblings with merosin-deficient congenital muscular dystrophy [Merozin negatif müsküler distrofi tanılı iki kardeşte yeni tanımlanmış bir çerçeve kayma mutasyonu]
(Galenos, 2020)We present two siblings with elevated serum creatine kinase concentrations, developmental delay, muscle weakness, and contractures of the lower limbs. Cranial magnetic resonance imaging revealed diffuse white matter ...