Absence of β-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy

@article{Monnier2009AbsenceO,
  title={Absence of β-tropomyosin is a new cause of Escobar syndrome associated with nemaline myopathy},
  author={Nicole Monnier and Joel Lunardi and Isabelle Marty and Paulette Mezin and Pierre Simon Jouk},
  journal={Neuromuscular Disorders},
  year={2009},
  volume={19},
  pages={118-123}
}
While TPM2 mutations identified so far in muscular diseases were all associated with a dominant inheritance pattern, we report the identification of a homozygous null allele mutation in the TPM2 gene in a patient who presented with a recessive form of nemaline myopathy associated with a non-lethal multiple pterygium syndrome (Escobar-MPS MIM# 265000). The TPM2 mutation led to a complete absence of the skeletal muscle isoform of beta-tropomyosin not compensated by expression of other beta… CONTINUE READING

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