Clinical and pathological heterogeneity of a congenital disorder of glycosylation manifesting as a myasthenic/myopathic syndrome

January 2014

Dorota M. Monies, Hindi N. Al-Hindi, Mohamed A. Al-Muhaizea, Dyala J. Jaroudi, Banan Al-Younes, Ewa A. Naim, Salma M. Wakil, Brian F. Meyer, Saeed Bohlega

Collaborators at the King Faisal Specialist Hospital and the Kink Abdulaziz City for Science and Technology, Saudi Arabia, identify an homozygous mutation of ALG2 that is related to congenital muscle weakness disorders. The Pippin Prep was used in sample prep for whole exome sequencing (TargetSeq) on the Ion Torrent Proton

Neuromuscul Disord (2014)

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