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Lethal multiple pterygium syndrome
- ... syndrome) is the milder of the two types. Lethal multiple pterygium syndrome is fatal before birth or very soon after ... do not have muscle weakness later in life.Lethal multiple pterygium syndrome has many of the same signs and symptoms ...
- ... production of any γ subunit will result in lethal multiple pterygium syndrome, which is fatal before birth, while mutations that ... embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am J Hum Genet. 2006 Aug;79(2): ...
