A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy

摘要: Chromosome 1p36 deletion syndrome is characterized by hypotonia, moderate to severe developmental and growth retardation, characteristic craniofacial dysmorphism. Muscle hypotonia delayed motor development are almost constant features of the syndrome. We report a 4-year-old Japanese girl with whose muscle pathology showed congenital fiber type disproportion (CFTD) myopathy. This first case associated CFTD. association may indicate that one CFTD loci located at 1p36. Ski proto-oncogene −/− mice have phenotypes resemble some observed in patients Because fluorescent situ hybridization analysis revealed human SKI gene deleted our patient, genes 1p36, including proto-oncogene, be involved this