Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy.

Ionasescu, V; Ionasescu, R; Searby, C

Ionasescu, V; Ionasescu, R; Searby, C.

Affiliation

Ionasescu V; Department of Pediatrics, University of Iowa Hospitals and Clinics, Iowa City 52242, USA.

Am J Med Genet ; 63(3): 486-91, 1996 Jun 14.

Article in En | MEDLINE | ID: mdl-8737658

Subject(s)

Charcot-Marie-Tooth Disease/etiology; Connexins/genetics; Genes, Dominant; Mutation; Adolescent; Adult; Age of Onset; Aged; Aged, 80 and over; Amino Acid Sequence; Charcot-Marie-Tooth Disease/genetics; Electromyography; Electrophysiology; Female; Humans; Male; Middle Aged; Molecular Sequence Data; Phenotype; X Chromosome; Gap Junction beta-1 Protein

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Collection: 01-internacional Database: MEDLINE Main subject: Charcot-Marie-Tooth Disease / Connexins / Genes, Dominant / Mutation Limits: Adolescent / Adult / Aged / Aged80 / Female / Humans / Male / Middle aged Language: En Journal: Am J Med Genet Year: 1996 Type: Article Affiliation country: United States

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