ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

Limb girdle muscular dystrophy type 2L or anoctaminopathy is a condition mainly characterized by adult onset proximal lower limb muscular weakness and raised CK values, due to recessive ANO5 gene mutations. An exon 5 founder mutation (c.191dupA) has been identified in most of the British and German...

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Κύριοι συγγραφείς:	Sarkozy, A, Hicks, D, Hudson, J, Laval, S, Barresi, R, Hilton-Jones, D, Deschauer, M, Harris, E, Rufibach, L, Hwang, E, Bashir, R, Walter, M, Krause, S, van den Bergh, P, Illa, I, Pénisson-Besnier, I, De Waele, L, Turnbull, D, Guglieri, M, Schrank, B, Schoser, B, Seeger, J, Schreiber, H, Gläser, D, Eagle, M
Μορφή:	Journal article
Γλώσσα:	English
Έκδοση:	2013

ANO5 gene analysis in a large cohort of patients with anoctaminopathy: confirmation of male prevalence and high occurrence of the common exon 5 gene mutation. ανά Sarkozy, A, Hicks, D, Hudson, J, Laval, S, Barresi, R, Hilton-Jones, D, Deschauer, M, Harris, E, Rufibach, L, Hwang, E, Bashir, R, Walter, M, Krause, S, van den Bergh, P, Illa, I, Pénisson-Besnier, I, De Waele, L, Turnbull, D, Guglieri, M, Schrank, B, Schoser, B, Seeger, J, Schreiber, H, Gläser, D, Eagle, M

Έκδοση 2013

Journal article

ANO5 Gene Analysis in a Large Cohort of Patients with Anoctaminopathy: Confirmation of Male Prevalence and High Occurrence of the Common Exon 5 Gene Mutation

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