Here, we report three families with EVMPS associated with one novel and two previously reported frameshift mutations in CHRNG. These mutations are anticipated to result in premature mRNA nonsense-mediated decay followed by a γ subunit deficiency or predicted to result in premature termination of transcription of the foetally expressed gamma subunit of the AChR. The gene discussed is CHRNG; the disease is autosomal recessive multiple pterygium syndrome.