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Mutations in protein O‐mannosyltransferase 2 (POMT2) (MIM#607439) have been identified in severe congenital muscular dystrophy such as Walker–Warburg syndrome (WWS) and milder limb‐girdle muscular dystrophy type 2N (LGMD2N). The aim… Click to show full abstract
Mutations in protein O‐mannosyltransferase 2 (POMT2) (MIM#607439) have been identified in severe congenital muscular dystrophy such as Walker–Warburg syndrome (WWS) and milder limb‐girdle muscular dystrophy type 2N (LGMD2N). The aim of this study is to investigate the genetic causes in patients with LGMD2N.
Keywords:
dystrophy;
limb girdle;
clinical exome;
girdle muscular;
muscular dystrophy;
exome sequencing
Journal Title: International Journal of Developmental Neuroscience
Year Published: 2022
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Journal Title: International Journal of Developmental Neuroscience
Year Published: 2022
Link to full text (if available)
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recommendations!