Abstract
The authors describe a family in which two individuals have clinical distal myopathy with rimmed vacuoles (DMRV). While the clinical and most of the pathologic features in these patients were compatible with a diagnosis of DMRV, the presence of inflammatory changes in the connective tissue between muscle fibers was not. Gene analysis revealed a compound heterozygous mutation in these individuals, characterized by V572L and I472T.
MeSH terms
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Adult
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Amino Acid Substitution
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Carbohydrate Epimerases / genetics*
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Connective Tissue / pathology
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DNA Mutational Analysis
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Genes, Recessive
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Heterozygote
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Humans
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Japan
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Male
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Multienzyme Complexes / genetics*
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Muscle, Skeletal / pathology
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Muscular Dystrophies / diagnosis*
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Muscular Dystrophies / genetics*
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Muscular Dystrophies / pathology
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Mutation, Missense
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Myositis / pathology
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Phosphotransferases (Alcohol Group Acceptor) / genetics*
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Vacuoles / pathology
Substances
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Multienzyme Complexes
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UDP-N-acetylglucosamine 2-epimerase - N-acetylmannosamine kinase
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Phosphotransferases (Alcohol Group Acceptor)
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N-acylmannosamine kinase
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Carbohydrate Epimerases
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UDP acetylglucosamine-2-epimerase