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Abstract

We report a case of congenital hypomyelination associated with cranial nerve dysfunction, respiratory failure, and hypertrophic cardiomyopathy confounding the clinical picture. Molecular genetic testing showed a complex de novo myelin protein zero (MPZ) mutation consisting of a 3bp deletion of CTA from nucleotide 550 to 552 and insertion of G at nucleotide 550 that by conceptual translation results in a frameshift mutation. Muscle biopsy findings are presented that allude to the effect of abnormal innervation on early postnatal muscle differentiation.