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3 Barohn RJ, Amato AA, Griggs RCA. Overview of distal myopathies: from the clinical to the molecular. Neuromusc Disord 1998; 8:309-316. This is a well written review article covering five distinct distal myopathies with discrete clinical and genetic patterns. Their proposed classification based on the onset of disease has now been widely accepted.
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7 Borg K, Âhlberg G, Anvret M, Edström L. Welander distal myopathy: an overview. Neuromusc Disord 1998; 1:115-118. An overview of the late onset WDM with autosomal dominant inheritance is provided. Electrophysiologic and muscle biopsy findings consited of both myopathic and neuropathic character. The rimmed vacuoles constituted a predominant change in muscular fibers. The tubulofilamentous inclusions with a diameter of 16-21 nm are similar to those seen in DMRV and IBM.
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15 Haravuori H, Mäkelä-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L. Assignment of the tibial muscular dystrophy locus to chromosome 2q31. Am J Hum Genet 1998; 62:620-626. The authors assigned the TMD locus to a restricted region on chromosome 2q31 with a maximum two-point LOD score with a marker D2S364. Interestingly a family with a more severe limb-girdle muscular dystrophy-type disease was also associated with homozygosity of the same disease haplotype.
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Tibial muscular dystrophy and late-onset distal myopathy are linked to the same locus on chromosome 2q
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16 Haravuori H, Mäkelä-Bengs P, Figlewicz DA, Udd B, Somer H, Griggs RCA, Peltonen L. Tibial muscular dystrophy and late-onset distal myopathy are linked to the same locus on chromosome 2q. Neurology 1998; 50 (Suppl 4):A186. Because the TMD and late-onset distal myopathy [13] are linked to the same locus on chromosome 9, these diseases appeared to be allelic.
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21 Nonaka I, Murakami N, Suzuki Y, Kawai M. Distal myopathy with rimmed vacuoles. Neuromusc Disord 1998; 8:333-337. An overview of DMRV, including a follow-up study, is provided. Unlike other forms of distal myopathy, the disease was progressive, resulting in a nonambulant state about 12 years after onset. Cardiac and respiratory muscles were less severely affected.
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