S Saredi1, S Gibertini1, A Ardissone2, I Fusco1, S Zanotti1, F Blasevich1, L Morandi1, I Moroni2, M Mora3. 1. Division of Neuromuscular Diseases and Neuroimmunology, Neurological Institute C. Besta, Milano, Italy. 2. Department of Child Neurology, Neurological Institute C. Besta, Milano, Italy. 3. Division of Neuromuscular Diseases and Neuroimmunology, Neurological Institute C. Besta, Milano, Italy. Electronic address: mmora@istituto-besta.it.
Abstract
BACKGROUND: POMT2 mutations have been identified in Walker-Warburg syndrome or muscle-eye-brain-like, but rarely in limb girdle muscular dystrophy (LGMD). RESULTS: Two POMT2 mutations, one null and one missense, were found in a patient with LGMD and mild mental impairment, no brain or ocular involvement, minor histopathological features, and slight reduction of α-dystroglycan (α-DG) glycosylation and α-DG laminin binding. CONCLUSIONS: Our case, the fourth LGMD POMT2-mutated reported to date, provides further evidence of correlation between level of α-DG glycosylation and phenotype severity.
BACKGROUND: POMT2 mutations have been identified in Walker-Warburg syndrome or muscle-eye-brain-like, but rarely in limb girdle muscular dystrophy (LGMD). RESULTS: Two POMT2 mutations, one null and one missense, were found in a patient with LGMD and mild mental impairment, no brain or ocular involvement, minor histopathological features, and slight reduction of α-dystroglycan (α-DG) glycosylation and α-DG laminin binding. CONCLUSIONS: Our case, the fourth LGMD POMT2-mutated reported to date, provides further evidence of correlation between level of α-DG glycosylation and phenotype severity.
Authors: Brianna N Brun; Tobias Willer; Benjamin W Darbro; Hernan D Gonorazky; Sergey Naumenko; James J Dowling; Kevin P Campbell; Steven A Moore; Katherine D Mathews Journal: Neuromuscul Disord Date: 2018-04-10 Impact factor: 4.296