Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel.

McClatchey, A I; McKenna-Yasek, D; Cros, D; Worthen, H G; Kuncl, R W; DeSilva, S M; Cornblath, D R; Gusella, J F; Brown, R H

McClatchey, A I; McKenna-Yasek, D; Cros, D; Worthen, H G; Kuncl, R W; DeSilva, S M; Cornblath, D R; Gusella, J F; Brown, R H.

Affiliation

McClatchey AI; Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Boston.

Nat Genet ; 2(2): 148-52, 1992 Oct.

Article in En | MEDLINE | ID: mdl-1338909

Subject(s)

Muscular Diseases/genetics; Sodium Channels/genetics; Adult; Base Sequence; DNA/genetics; DNA Mutational Analysis; Female; Humans; Male; Molecular Sequence Data; Muscular Diseases/metabolism; Myotonia Congenita/genetics; Myotonia Congenita/metabolism; Paralyses, Familial Periodic/genetics; Paralyses, Familial Periodic/metabolism; Pedigree; Phenotype; Point Mutation

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Database: MEDLINE Main subject: Sodium Channels / Muscular Diseases Limits: Adult / Female / Humans / Male Language: En Year: 1992 Type: Article

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PubMed Links

Database: MEDLINE Main subject: Sodium Channels / Muscular Diseases Limits: Adult / Female / Humans / Male Language: En Year: 1992 Type: Article