title: Congenital hypomyelinating neuropathy attributable to a de novo p.Asp61Asn mutation of the myelin protein zero gene.
abstract: We describe a boy aged 2 years and 11 months with congenital hypomyelinating neuropathy attributable to a de novo heterozygous missense mutation of c.181 G>A (p.Asp61Asn) in the myelin protein zero gene. A nerve conduction study indicated markedly reduced motor conduction velocities in the upper and lower extremities. Stimuli of up to 50-100 mA were necessary for nerve activation, suggesting diseased nerves with greatly decreased excitability. A sural nerve biopsy revealed a marked loss of large myelinated fibers, the absence of myelin breakdown products, occasional basal lamina onion-bulb formations, and tomacula-like structures. The p.Asp61Asn mutation is novel in congenital hypomyelinating neuropathy, but was previously reported in a patient with Charcot-Marie-Tooth disease type 1.
authors.affiliation: Department of Child Neurology, National Center of Neurology and Psychiatry, National Center Hospital, Tokyo, Japan.
authors.forename: Takahiro
authors.initials: T
authors.lastname: Yonekawa
authors.forename: Hirofumi
authors.initials: H
authors.lastname: Komaki
authors.forename: Yuko
authors.initials: Y
authors.lastname: Saito
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takashima
authors.forename: Masayuki
authors.initials: M
authors.lastname: Sasaki
mesh_terms: D001216:Asparagine / Q000235:genetics*; D001224:Aspartic Acid / Q000235:genetics*; D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D002675:Child, Preschool; D006801:Humans; D008297:Male; D018993:Myelin P0 Protein / Q000235:genetics*; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure
chemical_list: C560547:MPZ protein, human; D018993:Myelin P0 Protein; D001224:Aspartic Acid; D001216:Asparagine