http://www.cnr.it/ontology/cnr/individuo/prodotto/ID178893

Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy. (Articolo in rivista)

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Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy. (Articolo in rivista) (literal)

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Luca Passamonti a; Maria Muglia b; Angela Magariello b; Michele Bellesi a; Francesca Luisa Conforti b; Rosalucia Mazzei b; Alessandra Patitucci b; Anna Lia Gabriele b; Teresa Sprovieri b; Giuseppina Peluso b; Manuela Caracciolo b; Emanuele Medici a; Francesco Logullo a; Leandro Provinciali a; Aldo Quattrone b, c (2004)
Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy.
in Neuromuscular disorders
(literal)

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Luca Passamonti a; Maria Muglia b; Angela Magariello b; Michele Bellesi a; Francesca Luisa Conforti b; Rosalucia Mazzei b; Alessandra Patitucci b; Anna Lia Gabriele b; Teresa Sprovieri b; Giuseppina Peluso b; Manuela Caracciolo b; Emanuele Medici a; Francesco Logullo a; Leandro Provinciali a; Aldo Quattrone b, c (literal)

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a Institute of Neurological Sciences, Ospedale Regionale Torrette, University Ancona, Ancona, Italy b Institute of Neurological Sciences, National Research Council, Piano Lago di Mangone, Cosenza, Italy c Institute of Neurology, University Magna Graecia, Catanzaro, Italy (literal)

Titolo

Further evidence of genetic heterogeneity in autosomal dominant distal motor neuronopathy. (literal)

Abstract

Distal hereditary motor neuronopathy is a genetically and clinically heterogeneous disorder. To date, five loci, and their relative genes, have been mapped on chromosomes 7p14, 7q11, 9q34, 11q12 and 12q24, respectively. We describe an Italian family with autosomal dominant distal HMN starting at around 30 years of age with weakness and atrophy of distal leg muscles and pyramidal features. We performed genetic linkage analysis on chromosomes 7p14, 9q34, 11q12 and 12q24. Moreover we sequenced the genes mapped to 7q11 and 12q24. Negative LOD scores excluded linkage to 7p14, 9q34, and 11q12 chromosomes in our family. No mutations were found in genes mapped to 7q11 and 12q24. In addition, because of pyramidal features, we performed the linkage analysis to all the known loci for autosomal dominant hereditary spastic paraparesis. The analysis was negative thus excluding a complicated form of autosomal dominant hereditary spastic paraparesis. These data further confirm a genetic heterogeneity within inherited motor neuronopathy. (literal)

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