title: The first Japanese case of Charcot-Marie-Tooth disease type 4H with a novel FGD4 c.837-1G>A mutation.
abstract: Charcot-Marie-Tooth disease type 4H (CMT4H) is an autosomal recessive demyelinating neuropathy. It presents as infancy or early childhood-onset neuropathy associated with FGD4 mutations. Clinically it causes predominantly distal muscle weakness. On nerve biopsy examination, myelin outfoldings are seen. The previous case reports have been from regions bordering the Mediterranean, as well as a family from Northern Ireland. This paper presents the detailed clinical course of the first reported case of CMT4H in a Japanese woman. The patient showed mild weakness without scoliosis and a severe sensory disturbance; her functional impairment was less severe than the previously published cases. In addition, a novel homozygous FGD4 c.837-1G>A mutation was identified in this patient.
authors.affiliation: Department of Neurology, Chiba Children's Hospital, Chiba, Japan. higeji-chiba@umin.net
authors.forename: Hidee
authors.initials: H
authors.lastname: Arai
authors.forename: Makiko
authors.initials: M
authors.lastname: Hayashi
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Hayasaka
authors.forename: Takashi
authors.initials: T
authors.lastname: Kanda
authors.forename: Yuzo
authors.initials: Y
authors.lastname: Tanabe
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000235:genetics* / Q000473:pathology; D005260:Female; D006801:Humans; D007564:Japan; D008840:Microfilament Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D009413:Nerve Fibers, Myelinated / Q000473:pathology / Q000648:ultrastructure; D013497:Sural Nerve / Q000473:pathology / Q000648:ultrastructure; D055815:Young Adult
chemical_list: C485164:FGD4 protein, human; D008840:Microfilament Proteins
keywords: Charcot–Marie–Tooth disease type 4H; Electrophysiology; FGD4; Hereditary neuropathy; Pathology