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http://purl.uniprot.org/citations/11799477http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11799477http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/11799477http://www.w3.org/2000/01/rdf-schema#comment"The Charcot-Marie-Tooth (CMT) disorders comprise a group of clinically and genetically heterogeneous hereditary motor and sensory neuropathies, which are mainly characterized by muscle weakness and wasting, foot deformities, and electrophysiological, as well as histological, changes. A subtype, CMT2, is defined by a slight or absent reduction of nerve-conduction velocities together with the loss of large myelinated fibers and axonal degeneration. CMT2 phenotypes are also characterized by a large genetic heterogeneity, although only two genes---NF-L and KIF1Bbeta---have been identified to date. Homozygosity mapping in inbred Algerian families with autosomal recessive CMT2 (AR-CMT2) provided evidence of linkage to chromosome 1q21.2-q21.3 in two families (Zmax=4.14). All patients shared a common homozygous ancestral haplotype that was suggestive of a founder mutation as the cause of the phenotype. A unique homozygous mutation in LMNA (which encodes lamin A/C, a component of the nuclear envelope) was identified in all affected members and in additional patients with CMT2 from a third, unrelated family. Ultrastructural exploration of sciatic nerves of LMNA null (i.e., -/-) mice was performed and revealed a strong reduction of axon density, axonal enlargement, and the presence of nonmyelinated axons, all of which were highly similar to the phenotypes of human peripheral axonopathies. The finding of site-specific amino acid substitutions in limb-girdle muscular dystrophy type 1B, autosomal dominant Emery-Dreifuss muscular dystrophy, dilated cardiomyopathy type 1A, autosomal dominant partial lipodystrophy, and, now, AR-CMT2 suggests the existence of distinct functional domains in lamin A/C that are essential for the maintenance and integrity of different cell lineages. To our knowledge, this report constitutes the first evidence of the recessive inheritance of a mutation that causes CMT2; additionally, we suggest that mutations in LMNA may also be the cause of the genetically overlapping disorder CMT2B1."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.org/dc/terms/identifier"doi:10.1086/339274"xsd:string
http://purl.uniprot.org/citations/11799477http://purl.org/dc/terms/identifier"doi:10.1086/339274"xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Tazir M."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Tazir M."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Kozlov S."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Kozlov S."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Levy N."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Levy N."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Szepetowski P."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Szepetowski P."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Stewart C.L."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Stewart C.L."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Grid D."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Grid D."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Chaouch M."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Chaouch M."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Vallat J.-M."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Vallat J.-M."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Vandenberghe A."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"Vandenberghe A."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"De Sandre-Giovannoli A."xsd:string
http://purl.uniprot.org/citations/11799477http://purl.uniprot.org/core/author"De Sandre-Giovannoli A."xsd:string
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