Myopathy with hexagonally cross-linked crystalloid inclusions: delineation of a clinico-pathological entity.
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.
Claeys
Kristl G
KG
Unité de Morphologie Neuromusculaire, Institut de Myologie, Groupe Hospitalier Pitié-Salpêtrière, AP-HP, Paris, France. kclaeys@ukaachen.de
Pellissier
Jean-François
JF
Garcia-Bragado
Federico
F
Weis
Joachim
J
Urtizberea
Andoni
A
Poza
Juan-Jose
JJ
Cobo
Ana-Maria
AM
Stoltenburg
Gisela
G
Figarella-Branger
Dominique
D
Willems
Patrick J
PJ
Depuydt
Christophe E
CE
Kleiner
Wolfgang
W
Pouget
Jean
J
Piraud
Monique
M
Brochier
Guy
G
Romero
Norma B
NB
Fardeau
Michel
M
Goebel
Hans H
HH
Bönnemann
Carsten G
CG
Voit
Thomas
T
Eymard
Bruno
B
Laforêt
Pascal
P
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D015153:Blotting, Western; D051244:Caveolin 3 / Q000235:genetics / Q000378:metabolism; D003402:Creatine Kinase / Q000097:blood; D015444:Exercise; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D008875:Middle Aged; D018908:Muscle Weakness / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D018482:Muscle, Skeletal / Q000378:metabolism / Q000473:pathology*; D009135:Muscular Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D010641:Phenotype
D051244:Caveolin 3; D003402:Creatine Kinase