Key result
Maternal isodisomy of chromosome 7 resulted in the first reported case of Becker recessive myotonia, presenting with both myotonia and mild features of Silver Russell Syndrome.
Case Report (n=1)
No
This is the first reported case of recessive congenital myotonia resulting from maternal uniparental disomy for chromosome 7.
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May prompt genetic evaluation for maternal isodisomy 7 in myotonia with SRS features; leaves open broader phenotypic associations.
Bulli et al. (2009) conducted a case report in Recessive congenital myotonia (Becker disease) (n=1). Maternal isodisomy of chromosome 7 was evaluated on Clinical and molecular diagnosis. Maternal isodisomy of chromosome 7 resulted in the first reported case of Becker recessive myotonia, presenting with both myotonia and mild features of Silver Russell Syndrome.
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