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Gene Locus for Autosomal Recessive Distal Myopathy with Rimmed Vacuoles Maps to Chromosome 9 Ann Neurol 41:432-437, Ikeuchi,T.,et al, 1997 See this aricle in Pubmed Article Abstract Distal myopathy with rimmed vacuoles is an autosomal recessive muscular disorder,characterized clinically by weakness of the distal muscles in the lower limbs in early adulthood.Recently,the gene locus for familial vacuolar myopathy with autosomal recessive inheritance(hereditary inclusion body myopathy)was mapped to chromosome 9 by genome-wide linkage analysis of nine Persian-Jewish families.Since both disease conditions share similar clinical,genetic,and histopathological features,we analyzed seven families with distal myopathy with rimmed vacuoles using ten microsatellite markers within the region of the hereditary inclusion body myopathy locus.Detection of obligate recombination events as well as multipoint linkage analysis revealed that the most likely location of the distal myopathy with rimmed vacuoles gene is in a 23.3-cM interval defined by D9S319 and D9S276 on chromosome 9.The results raise the possibility that distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy in Persian Jews are allelic diseases.

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(click to filter results - removes previous filter) chromosome 9 distal muscle weakness familial foot drop gene genetic neurologic disorders inclusion bodies myopathy myopathy,distal myopathy,distal,vacuolar myopathy,inclusion body myopathy,inclusion body,hereditary myopathy,vacuolar

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