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Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation
Author(s) -
Szigeti Kinga,
Saifi Gulam Mustafa,
Armstrong Dawna,
Belmont John W.,
Miller Geoffrey,
Lupski James R.
Publication year - 2003
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.10681
Subject(s) - frameshift mutation , muscle biopsy , mutation , medicine , pathology , biology , genetics , anatomy , gene , biopsy
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.