Journal of inborn errors of metabolism & screening

HIGHLIGHTS

• who: M.A. Cubilla et al. from the Clinical features, immunohistochemical staining, Western blot, brain and muscle`s Magnetic Resonance Imaging (MRI) are all useful tools to direct genetic testingThey can be also classified according to the subcellular location of the mutated protein and/or the consequences at the skeletal muscle level (extracellular matrix, sarcolemma, basal lamina, endoplasmic reticulum, and nuclear envelope). The CK levels are low or remain unchanged [1, ]. In, Quijano-Roy et al set out a global algorithm that facilitates the classification into five main forms of CMDs according to the affected gene [1 . . .
  

   

  

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