PMID: 11310621Apr 20, 2001Paper

A novel autosomal dominant distal myopathy with early respiratory failure: clinico-pathologic characteristics and exclusion of linkage to candidate genetic loci

Annals of Neurology
Patrick F ChinneryK M Bushby

Abstract

We describe a novel autosomal dominant myopathy presenting in mid-adult life with tibialis anterior weakness. We carried out a detailed clinical assessment of 24 individuals spanning three generations, documenting pathologic features of the muscles in 7 of the 11 affected individuals, including an autopsy study on one case. The second generation of affected individuals presented at an earlier age, and the disease progressed more rapidly than in the first generation. Lung function tests revealed progressive global respiratory muscle weakness detectable from the time of presentation, with preferential diaphragmatic involvement in some cases. Hip girdle and shoulder girdle weakness appeared later in the disease course. We observed a striking correlation between the clinical and pathological features. Clinically unaffected muscles had minimal pathologic change. Fiber splitting, eosinophilic inclusions, and vacuoles with basophilic rims were seen in moderately affected muscles, and fat and fibrous connective tissue replaced muscle fibers in the severely involved muscles. The inclusions were Congophilic and reacted with antibodies to desmin, beta-amyloid, and phosphorylated tau protein. The disease was not linked to any of the known ...Continue Reading

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Citations

Mar 24, 2004·Neuromuscular Disorders : NMD·Henna HaravuoriBjarne Udd
May 12, 2012·Brain : a Journal of Neurology·Gerald PfefferPatrick F Chinnery
May 12, 2012·Brain : a Journal of Neurology·Monica OhlssonAnders Oldfors
May 12, 2012·Brain : a Journal of Neurology·Kristen Jean Nowak
Apr 23, 2013·Journal of Neurology, Neurosurgery, and Psychiatry·Johanna PalmioBjarne Udd
Jul 20, 2014·Neurologic Clinics·Mazen M Dimachkie, Richard J Barohn
Sep 20, 2001·Current Opinion in Neurology·B Udd, R Griggs
Mar 1, 2002·Journal of Clinical Neuromuscular Disease·Zachary Simmons, Javad Towfighi
Oct 27, 2018·Journal of Neuropathology and Experimental Neurology·Rainiero Ávila-PoloNorma Beatriz Romero

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