title: Disturbance of muscle fiber differentiation in congenital hypomyelinating neuropathy caused by a novel myelin protein zero mutation.
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.
authors.affiliation: Department of Molecular and Human Genetics, Baylor College of Medicine and Texas Children's Hospital, One Baylor Plaza, Houston, TX 77030, USA.
authors.forename: Kinga
authors.initials: K
authors.lastname: Szigeti
authors.forename: Gulam Mustafa
authors.initials: GM
authors.lastname: Saifi
authors.forename: Dawna
authors.initials: D
authors.lastname: Armstrong
authors.forename: John W
authors.initials: JW
authors.lastname: Belmont
authors.forename: Geoffrey
authors.initials: G
authors.lastname: Miller
authors.forename: James R
authors.initials: JR
authors.lastname: Lupski
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002454:Cell Differentiation; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D003711:Demyelinating Diseases / Q000151:congenital* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008854:Microscopy, Electron; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000166:cytology / Q000294:innervation* / Q000473:pathology*; D018993:Myelin P0 Protein / Q000235:genetics*; D016133:Polymerase Chain Reaction; D013497:Sural Nerve / Q000473:pathology
chemical_list: D018993:Myelin P0 Protein