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Article

Homozygous intronic variants in TPM2 cause recessively inherited Escobar variant of multiple pterygium syndrome and congenital myopathy.

Neuromuscular disorders : NMD - 1 Apr 2021

Schirwani Schaida, Sarkozy Anna, Phadke Rahul, Childs Anne-Marie, Mein Rachael, Ismail Azzam, Smith Audrey, Muntoni Francesco, Hobson Emma, Pysden Karen

Abstract excerpt

Pathogenic variants in TPM2 have been associated with a variable clinical spectrum, including congenital myopathies and distal arthrogryposis, all but one with dominant inheritance. We report the second case of recessively inherited TPM2-related Escobar variant of multiple pterygium syndrome and congenital myopathy in a patient from a consanguineous family. Ultra-structural examination of the biopsy revealed few...

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PMID: 33558124
DOI: 10.1016/j.nmd.2020.09.033

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