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Two additional unrelated women presented with adult-onset mitochondrial disease with ptosis and progressive myopathy.One patient also developed a mild weakness of the upper and lower limb-girdle muscles with occasional exertional dyspnea.In an uncle and niece with short stature and strikingly similar facial features consistent with Seckel syndrome, Shaheen et al.PEOA6 is characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA (mt DNA) deletions on muscle biopsy.For a discussion of genetic heterogeneity of Seckel syndrome, see SCKL1 (210600). (2014) studied an uncle and niece, both born of consanguineous marriages, with short stature and strikingly similar facial features consistent with Seckel syndrome.The uncle also had severe kyphoscoliosis resulting in spinal cord compression and paraplegia, whereas his niece had a normal spine but exhibited an ectopic kidney. (2014) noted that both parental pairs in the extended family had had numerous miscarriages.In 2 sibs and 2 unrelated women with autosomal dominant progressive external ophthalmoplegia with DNA deletions-6, Ronchi et al.(2013) identified 3 different heterozygous mutations in the DNA2 gene (601810.0001-601810.0003).
The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.Both had global developmental delay and intellectual disability.The uncle also had severe kyphoscoliosis resulting in spinal cord compression and paraplegia, whereas his niece had a normal spine but exhibited an ectopic kidney.Symptoms may appear in childhood or adulthood and show slow progression (summary by 23352259, images] [Full Text]" pmid="23352259"Ronchi et al.(2013) reported 2 sibs and 2 unrelated patients with PEOA6.