Sep 17, 1999

A distinctive autosomal dominant vacuolar neuromyopathy linked to 19p13

S ServideiG Novelli


To characterize a kindred with a distinctive autosomal dominant neuromuscular disorder. The authors studied a large Italian family affected by a progressive neuromyopathy. Ten individuals over three generations were affected. The disease was characterized by onset from the late teens to early 50s with distal leg weakness and atrophy, development of generalized muscle weakness with distal-to-proximal progression sparing facial and ocular muscles, dysphonia and dysphagia, pes cavus and areflexia, variable clinical expression ranging from subclinical myopathy to severely disabling weakness, and mixed neurogenic and myopathic abnormalities on electromyography. Morphologic, immunocytochemical, and ultrastructural studies were performed in muscle biopsies from three affected patients. A genomewide linkage analysis through the genotyping of 292 microsatellite markers spanning the 22 autosomes was undertaken to map the disorder segregating in this family. All muscle biopsies showed variation of fiber size, panesterase-positive angular fibers, mild to severe fibrosis, and numerous "rimmed vacuoles." Electron microscopy failed to demonstrate the nuclear or cytoplasmic filamentous inclusions specific of inclusion-body myopathies and, acco...Continue Reading

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Mentioned in this Paper

Surface Electromyography
Establishment and Maintenance of Localization
Short Tandem Repeat
Acquired Cavus Deformity of Foot (Disorder)
Myopathic Carnitine Deficiency
Miller Fisher Syndrome

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