Results 141 to 150 of about 1,745 (185)

Apoptotic muscle fiber degeneration in distal myopathy with rimmed vacuoles

Acta Neuropathologica, 2001
Rimmed vacuole formation, tubulofilamentous nuclear inclusions and muscle fiber atrophy are the characteristic pathological findings in distal myopathy with rimmed vacuoles (DMRV). Necrotic muscle fibers were few in number and did not appear to account for the muscle weakness, but the nuclear changes with myofibrillar degeneration followed by rimmed ...
C, Yan, K, Ikezoe, I, Nonaka
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Distal myopathy with rimmed vacuoles is allelic to hereditary inclusion body myopathy

Neurology, 2002
Distal myopathy with rimmed vacuoles (DMRV) is an autosomal-recessive disorder with preferential involvement of the tibialis anterior muscle that starts in young adulthood and spares quadriceps muscles. The disease locus has been mapped to chromosome 9p1-q1, the same region as the hereditary inclusion body myopathy (HIBM) locus.
I, Nishino, S, Noguchi, K, Murayama, A, Driss, K, Sugie, Y, Oya, T, Nagata, K, Chida, T, Takahashi, Y, Takusa, T, Ohi, J, Nishimiya, N, Sunohara, E, Ciafaloni, M, Kawai, M, Aoki, I, Nonaka   +16 more
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Distal myopathy with rimmed vacuoles in a case of opercular syndrome

Brain and Development, 2006
We report the case of a 30-year-old man with opercular syndrome who developed distal myopathy with rimmed vacuoles (DMRV). Muscle biopsy showed variation in fiber size and scattered fibers with rimmed vacuoles. The identification of a homozygous c. 1714G>C (p. V572L) mutation in the GNE gene genetically confirmed the diagnosis of DMRV, which is thought
Yoshitaka, Toriumi, Yuichi, Takusa, Atsushi, Uchiyama, Masahiko, Kimura, Hitoshi, Sejima, Seiji, Yamaguchi, Isematsu, Eda, Ichizo, Nishino, Ikuya, Nonaka   +8 more
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Autosomal recessive oculopharyngodistal myopathy in light of distal myopathy with rimmed vacuoles and oculopharyngeal muscular dystrophy

Neuromuscular Disorders, 1998
We investigated two Japanese siblings presenting with oculopharyngodistal myopathy, whose healthy parents were consanguineous. To clarify their disease characteristics, we compared them with four patients with distal myopathy with rimmed vacuoles linked to chromosome 9p1-q1, and 36 patients with oculopharyngeal muscular dystrophy linked to 14q11.2-q13.
E, Uyama, M, Uchino, D, Chateau, F M, Tomé   +3 more
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Atypical Parkinsonism in distal myopathy with rimmed vacuoles

Movement Disorders, 2008
AbstractA patient with distal myopathy with rimmed vacuoles (DMRV) exhibited Parkinsonism with a severe writing tremor that responded poorly to levodopa. Molecular genetic analysis revealed that the patient had the D176V/V572L compound heterozygous mutation in the UDP‐N‐acetylglucosamine 2‐epimerase/N‐acetylmannosamine kinase (GNE) gene ...
Tomohiko, Ishihara, Tetsutaro, Ozawa, Shuichi, Igarashi, Yuko, Kitsukawa, Masahito, Takagi, Masaki, Hirose, Takayoshi, Tokutake, Keiko, Tanaka, Masatoyo, Nishizawa   +8 more
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DISTAL MYOPATHY WITH RIMMED VACUOLE FORMATION

Brain, 1989
A long-term follow-up study of patients with familial distal myopathy with rimmed vacuole formation and a review of the literature indicates that the prognosis of the disorder was extremely poor as to daily life. Although the initial symptom appearing in early adulthood was muscular wasting and weakness in the legs, especially the distal muscles ...
N, Sunohara, I, Nonaka, N, Kamei, E, Satoyoshi   +3 more
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Distal myopathy with rimmed vacuoles (DMRV)

Neurology, 2004
Study of the UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene (GNE) revealed that almost all cases of distal myopathy with rimmed vacuoles were caused by GNE mutations. Seven new mutations were identified, including M712T, which is the most common mutation in Jewish hereditary inclusion body myopathy.
H, Tomimitsu, J, Shimizu, K, Ishikawa, N, Ohkoshi, I, Kanazawa, H, Mizusawa   +5 more
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Reducing bodies in distal myopathy with rimmed vacuole formation

Acta Neuropathologica, 1994
A 42-year-old woman with distal myopathy with rimmed vacuoles had intracytoplasmic inclusion bodies similar to those described in reducing body myopathy. Since these inclusions were found in fibers with high acid phosphatase activity and occasional rimmed vacuoles, their formation appeared to correlate with active myofibrillar degeneration, but their ...
B H, Kiyomoto, N, Murakami, J, Kishibayashi, N, Sunohara, I, Nonaka   +4 more
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Muscle fiber degeneration in distal myopathy with rimmed vacuole formation

Acta Neuropathologica, 1994
In 11 patients with distal myopathy with rimmed vacuole formation (DMRV), a well-known autosomal recessively inherited disorder, the rimmed vacuole formation appears to be the main pathological change accounting for the progressive muscle fiber degeneration.
N, Murakami, Y, Ihara, I, Nonaka
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Immunohistochemical study of clathrin in distal myopathy with rimmed vacuoles

Acta Neuropathologica, 1998
Clathrin-coated vesicles are involved in three receptor-mediated intracellular transport pathways: export from the Golgi apparatus, transfer of lysosomal enzymes from the Golgi apparatus to lysosomes, and endocytosis at the plasma membrane. Seeking evidence of transport abnormalities in distal myopathy with rimmed vacuoles (DMRV), we performed ...
T, Kumamoto, T, Abe, S, Nagao, H, Ueyama, T, Tsuda   +4 more
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