مورد إلكتروني
Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia.
| العنوان: | Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. |
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| المؤلفون: | Kovach, MJ |
| المصدر: | Molecular genetics and metabolism; vol 74, iss 4, 458-475; 1096-7192 |
| بيانات النشر: | eScholarship, University of California 2001-12-01 |
| تفاصيل مُضافة: | Kovach, MJ Waggoner, B Leal, SM Gelber, D Khardori, R Levenstien, MA Shanks, CA Gregg, G Al-Lozi, MT Miller, T Rakowicz, W Lopate, G Florence, J Glosser, G Simmons, Z Morris, JC Whyte, MP Pestronk, A Kimonis, VE |
| نوع الوثيقة: | Electronic Resource |
| مستخلص: | Autosomal dominant myopathy, Paget disease of bone, and dementia constitute a unique disorder (MIM 605382). Here we describe the clinical, biochemical, radiological, and pathological characteristics of 49 affected (23 male, 26 female) individuals from four unrelated United States families. Among these affected individuals 90% have myopathy, 43% have Paget disease of bone, and 37% have premature frontotemporal dementia. EMG shows myopathic changes and muscle biopsy reveals nonspecific myopathic changes or blue-rimmed vacuoles. After candidate loci were excluded, a genome-wide screen in the large Illinois family showed linkage to chromosome 9 (maximum LOD score 3.64 with marker D9S301). Linkage analysis with a high density of chromosome 9 markers generated a maximum two-point LOD score of 9.29 for D9S1791, with a maximum multipoint LOD score of 12.24 between D9S304 and D9S1788. Subsequent evaluation of three additional families demonstrating similar clinical characteristics confirmed this locus, refined the critical region, and further delineated clinical features of this unique disorder. Hence, autosomal dominant inclusion body myopathy (HIBM), Paget disease of bone (PDB), and frontotemporal dementia (FTD) localizes to a 1.08-6.46 cM critical interval on 9p13.3-12 in the region of autosomal recessive IBM2. |
| مصطلحات الفهرس: | Muscle, Skeletal, Brain, Chromosomes, Human, Pair 9, Humans, Osteitis Deformans, Myositis, Inclusion Body, Dementia, Chromosome Mapping, Pedigree, Microsatellite Repeats, Haplotypes, Genes, Dominant, Molecular Sequence Data, Adult, Aged, Middle Aged, Child, Female, Male, Genetic Linkage, autosomal dominant, hereditary inclusion body myopathy, Paget disease of bone, frontotemporal dementia, amyotropic lateral sclerosis, limb-girdle-muscular dystrophy, rimmed vacuoles, IBM2, chromosome 9p13.3-12, Brain Disorders, Genetics, Neurodegenerative, Acquired Cognitive Impairment, Clinical Research, Rare Diseases, Genetics & Heredity, Clinical Sciences, article |
| URL: | |
| الإتاحة: | Open access content. Open access content CC-BY |
| ملاحظة: | application/pdf Molecular genetics and metabolism vol 74, iss 4, 458-475 1096-7192 |
| أرقام أخرى: | CDLER oai:escholarship.org:ark:/13030/qt66q2534r qt66q2534r https://escholarship.org/uc/item/66q2534r https://escholarship.org/ 1367491476 |
| المصدر المساهم: | UC MASS DIGITIZATION From OAIster®, provided by the OCLC Cooperative. |
| رقم الأكسشن: | edsoai.on1367491476 |
| قاعدة البيانات: | OAIster |
| الوصف غير متاح. |