P-7 Clinical and electrophysiological feature of 13 Italian patients with oculopharyngeal muscular dystrophy (OPMD)
نویسندگان
چکیده
P-5 Search for mutations in the RYR1 gene in Italian patients with congenital myopathy D. Cassandrini, R. Trovato, M. Pane, A. D’Amico, G. Comi, R. Battini, C. Fiorillo, F.M. Santorelli, C. Minetti, C. Bruno; and the Italian Network for Congenital Myopathies IRCCS “Stella Maris”, Pisa, Italy; 1 Policlinico Gemelli, Rome, Italy; 2 IRCCS “Bambin Gesù”, Roma, Italy; 3 Policlinico Maggiore, Milano, Italy; 4 IRCCS “G. Gaslini”, Genova, Italy
منابع مشابه
Oculopharyngeal muscular dystrophy among Bulgarian Jews: a new cluster?
BACKGROUND Oculopharyngeal muscular dystrophy (OPMD) produced by the (GCG)13 expansion mutation in the PABPN1 gene is frequent among Uzbek Jews in Israel. OBJECTIVES To describe the phenotypic and genotypic features in five Bulgarian Jewish patients, from different families, with autosomal dominant OPMD. METHODS We performed clinical follow-up, electrodiagnostic tests and mutation detection...
متن کاملOculopharyngeal muscular dystrophy: phenotypic and genotypic studies in a UK population.
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant disorder of late onset that commonly presents with ptosis and dysphagia. The genetic basis of the condition has been identified recently as a stable trinucleotide repeat expansion in exon 1 of the poly(A) binding protein 2 gene (PABP2), in which (GCG)(6) is the normal repeat length. The prevalence of OPMD is greatest in patients...
متن کاملOver-expression of BCL2 rescues muscle weakness in a mouse model of oculopharyngeal muscular dystrophy
Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscular dystrophy caused by a polyalanine expansion mutation in the coding region of the poly-(A) binding protein nuclear 1 (PABPN1) gene. In unaffected individuals, (GCG)(6) encodes the first 6 alanines in a homopolymeric stretch of 10 alanines. In most patients, this (GCG)(6) repeat is expanded to (GCG)(8-13), leading to a stretch of ...
متن کاملA GCG expansion (GCG)11 in polyadenylate-binding protein nuclear 1 gene caused oculopharyngeal muscular dystrophy in a Chinese family
PURPOSE To identify the mutation in polyadenylate-binding protein nuclear 1 gene (PABPN1, previously termed PABP2) in a Chinese family with autosomal, dominantly inherited oculopharyngeal muscular dystrophy (OPMD). METHODS Clinical and ophthalmologic examinations were conducted on available living family members from three generations. Genomic DNA was extracted from peripheral blood leukocyte...
متن کاملPABPN1 gene therapy for oculopharyngeal muscular dystrophy
Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant, late-onset muscle disorder characterized by ptosis, swallowing difficulties, proximal limb weakness and nuclear aggregates in skeletal muscles. OPMD is caused by a trinucleotide repeat expansion in the PABPN1 gene that results in an N-terminal expanded polyalanine tract in polyA-binding protein nuclear 1 (PABPN1). Here we show ...
متن کامل