Late-onset autosomal recessive limb-girdle muscular dystrophy with rimmed vacuoles.
We report on two siblings with late-onset, limb-girdle muscular dystrophy (LGMD) inherited in an autosomal recessive manner. The LGMD was characterized by many rimmed vacuoles and reduced expression of the laminin beta1 chain in skeletal muscle. Both patients developed a progressive wasting and weakness of limb-girdle muscles in the late forties or early fifties; their facial, ocular, bulbar, and cardiac muscles were not involved. Histopathology of skeletal muscles biopsies showed typical dystrophic changes with many rimmed vacuoles. The immunoreactivity of the laminin beta1 chain was reduced in the muscle fibers, while dystrophin, sarcoglycans, beta-dystroglycan, dysferlin, and other laminin components were normally expressed. A mutation search revealed that no mutation existed in the coding region of the calpain 3, telethonin and UDP-N-acetylglucosamine 2-epimerase/N-acetylmanosamine kinase (GNE) genes. We conclude that this autosomal recessive LGMD is unknown and characterized by its late onset, rimmed vacuoles and reduction of the laminin beta1 chain in muscle fibers.
Nakamura
Akinori
A
Third Department of Medicine, Shinshu University School of Medicine, 3-1-1 Asahi, Matsumoto 390-8621, Japan. anakamu@hsp.md.shinshu-u.ac.jp
Yoshida
Kunihiro
K
Ikeda
Shu-Ichi
S
D008841:Actin Cytoskeleton / Q000473:pathology; D001706:Biopsy; D002154:Calpain / Q000235:genetics; D002869:Chromosome Aberrations; D064211:Connectin; D003241:Consanguinity; D003402:Creatine Kinase / Q000097:blood; D003593:Cytoplasm / Q000473:pathology; D004252:DNA Mutational Analysis; D005260:Female; D020235:Gait Apraxia / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D005808:Genes, Recessive; D005819:Genetic Markers / Q000235:genetics; D006801:Humans; D002479:Inclusion Bodies / Q000473:pathology; D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase / Q000097:blood; D008854:Microscopy, Electron; D008856:Microscopy, Fluorescence; D009097:Multienzyme Complexes / Q000235:genetics; D009124:Muscle Proteins / Q000235:genetics; D018482:Muscle, Skeletal / Q000473:pathology; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D009136:Muscular Dystrophies / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D009460:Neurologic Examination; D010375:Pedigree; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014057:Tomography, X-Ray Computed; D014617:Vacuoles / Q000473:pathology*
D064211:Connectin; D005819:Genetic Markers; D007527:Isoenzymes; D009097:Multienzyme Complexes; D009124:Muscle Proteins; C577292:TCAP protein, human; C482901:UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase; D007770:L-Lactate Dehydrogenase; D003402:Creatine Kinase; C105884:CAPN3 protein, human; D002154:Calpain; C491373:Capn3 protein, mouse