Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity

Neuromuscular Disorders : NMD
Kristl G ClaeysPascal Laforêt

Abstract

A novel myopathy characterized by hexagonally cross-linked tubular arrays has been reported in five patients. We studied the clinical and histopathological features of five additional unrelated patients with this myopathy. Patients experienced exercise intolerance with exercise-induced myalgia and weakness, without rhabdomyolysis. One patient additionally presented mild permanent pelvic girdle muscle weakness. Age at onset varied between 13 and 56 years. The inclusions were eosinophilic on H and E, bright red with modified Gomori's trichrome stains, present in type 2 fibers, and revealed immunoreactivity selectively for a caveolin-3-antibody. Ultrastructurally, the inclusions showed a highly organized, hexagonally cross-linked crystalloid structure. Mutations in the caveolin-3 encoding gene were excluded. Biochemical assessment of glycogenolysis in muscle was normal. Inherited or sporadic myopathy with hexagonally cross-linked tubular arrays is associated with a homogeneous clinical and histopathological phenotype. This myopathy should be included in the differential diagnosis of patients with exercise intolerance and myalgia.

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Citations

May 1, 2013·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·T KyriakidesD Hilton-Jones
Dec 17, 2011·Seminars in Pediatric Neurology·Hans H Goebel, Astrid Blaschek
Oct 19, 2013·Ultrastructural Pathology·Hisashi FujiokaCharles L Hoppel
Sep 21, 2013·Ultrastructural Pathology·Hans H Goebel, Werner Stenzel

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