Congenital myasthenic syndrome caused by two non-N88K rapsyn mutations.

Maselli, R  A; Dris, H; Schnier, J; Cockrell, J  L; Wollmann, R  L

Maselli, R A; Dris, H; Schnier, J; Cockrell, J L; Wollmann, R L.

Clin Genet ; 72(1): 63-5, 2007 Jul.

Article in En | MEDLINE | ID: mdl-17594401

Subject(s)

Muscle Proteins/genetics; Myasthenic Syndromes, Congenital/genetics; Point Mutation; Amino Acid Sequence; Amino Acid Substitution; Cell Line; Exons; Female; Genes, Recessive; Green Fluorescent Proteins/genetics; Green Fluorescent Proteins/metabolism; Heterozygote; Humans; Infant; Male; Muscle Proteins/metabolism; Pedigree; Receptors, Nicotinic/genetics; Receptors, Nicotinic/metabolism; Recombinant Fusion Proteins/genetics; Recombinant Fusion Proteins/metabolism; Transfection

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Collection: 01-internacional Database: MEDLINE Main subject: Point Mutation / Myasthenic Syndromes, Congenital / Muscle Proteins Limits: Female / Humans / Infant / Male Language: En Journal: Clin Genet Year: 2007 Document type: Article

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