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- W2079781210 abstract "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." @default.
- W2079781210 created "2016-06-24" @default.
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- W2079781210 date "2001-12-01" @default.
- W2079781210 modified "2023-10-14" @default.
- W2079781210 title "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" @default.
- W2079781210 cites W10317470 @default.
- W2079781210 cites W1511517753 @default.
- W2079781210 cites W1519466388 @default.
- W2079781210 cites W1538524809 @default.
- W2079781210 cites W1549053710 @default.
- W2079781210 cites W1554390784 @default.
- W2079781210 cites W1573179356 @default.
- W2079781210 cites W1607556721 @default.
- W2079781210 cites W1607830031 @default.
- W2079781210 cites W1614256764 @default.
- W2079781210 cites W1647386363 @default.
- W2079781210 cites W1847168837 @default.
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- W2079781210 cites W1970283678 @default.
- W2079781210 cites W1974583546 @default.
- W2079781210 cites W1974760231 @default.
- W2079781210 cites W1981308961 @default.
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- W2079781210 cites W1989901426 @default.
- W2079781210 cites W1993327048 @default.
- W2079781210 cites W1996596731 @default.
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- W2079781210 cites W2008854521 @default.
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- W2079781210 cites W2022207027 @default.
- W2079781210 cites W2035975372 @default.
- W2079781210 cites W2055679607 @default.
- W2079781210 cites W2058161128 @default.
- W2079781210 cites W2058909013 @default.
- W2079781210 cites W2060800163 @default.
- W2079781210 cites W2063763517 @default.
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- W2079781210 cites W2066789321 @default.
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- W2079781210 cites W2086281676 @default.
- W2079781210 cites W2088584394 @default.
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- W2079781210 cites W2116982426 @default.
- W2079781210 cites W2119981808 @default.
- W2079781210 cites W2120481355 @default.
- W2079781210 cites W2141365662 @default.
- W2079781210 cites W2148080316 @default.
- W2079781210 cites W2155681096 @default.
- W2079781210 cites W2156866817 @default.
- W2079781210 cites W2167311298 @default.
- W2079781210 cites W2167616979 @default.
- W2079781210 cites W2304911004 @default.
- W2079781210 cites W2319777076 @default.
- W2079781210 cites W2325732457 @default.
- W2079781210 cites W2330100547 @default.
- W2079781210 cites W2408318690 @default.
- W2079781210 cites W2409554419 @default.
- W2079781210 cites W2443418697 @default.
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- W2079781210 doi "https://doi.org/10.1006/mgme.2001.3256" @default.
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