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Neuromuscul Disord. 2006 Jul;16(7):446-8. Epub 2006 May 15.

POMT2 mutation in a patient with 'MEB-like' phenotype.

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  • 1Eugenio Mercuri Department of Paediatric Neurology, Child Neurology Unit, Catholic University, Rome, Italy.


Mutations in POMT2 have so far only been reported in patients with Walker-Warburg phenotype. We report heterozygous POMT2 mutations in an a girl with a milder phenotype characterized by mental retardation, microcephaly, hypertrophy of the quadriceps and calf muscles, and structural brain changes mostly affecting the posterior fossa. Our findings suggest that, as previously reported for POMT1 and FKRP, mutations in the POMT2 can also be associated with clinical heterogeneity.

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