title: Novel MPZ mutations and congenital hypomyelinating neuropathy.
abstract: We report two new MPZ mutations causing congenital hypomyelinating neuropathies; c.368_382delGCACGTTCACTTGTG (in-frame deletion of five amino acids) and c.392A>G, Asn131Ser. Each child had clinical and electrodiagnostic features consistent with an inherited neuropathy, confirmed by sural nerve biopsy. The cases illustrate the clinically heterogeneity that exists even within early-onset forms of this disease. They also lend additional support to the emerging clinical and laboratory evidence that impaired intracellular protein trafficking may represent the cause of some congenital hypomyelinating neuropathies.
authors.affiliation: Department of Neurology, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, United States.
authors.forename: Hugh J
authors.initials: HJ
authors.lastname: McMillan
authors.forename: Sandro
authors.initials: S
authors.lastname: Santagata
authors.forename: Frederic
authors.initials: F
authors.lastname: Shapiro
authors.forename: Sat Dev
authors.initials: SD
authors.lastname: Batish
authors.forename: Libby
authors.initials: L
authors.lastname: Couchon
authors.forename: Stephen
authors.initials: S
authors.lastname: Donnelly
authors.forename: Peter B
authors.initials: PB
authors.lastname: Kang
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D002675:Child, Preschool; D004568:Electrodiagnosis; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics*; D009431:Neural Conduction / Q000502:physiology; D013497:Sural Nerve / Q000473:pathology* / Q000503:physiopathology
chemical_list: D018993:Myelin P0 Protein