We report on the first two families with recessive mutations in the MSTO1 gene. The proband from family 1, second child of non consanguineous parents, presented at the age of one year with motor delay. At age 7 years he shows predominantly limb girdle muscle weakness, ataxia and cerebellar hypoplasia, in particular of vermis. CK was raised up to 4000 IU/L. Muscle biopsy showed dystrophic changes and vacuolation. The two sisters from family 2 showed a more complex phenotype, with growth delay, inability to walk independently, cerebellar atrophy and ataxia, pigmentary retinopathy with papillary pallor, pectus excavatum and scoliosis.

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