Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy.

@article{Sobue1993SubclinicalPE,
  title={Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy.},
  author={Gen Sobue and Manabu Doyu and Teruhiko Kachi and Takeshi Yasuda and Eiichirou Mukai and Toshiyuki Kumagai and Terunori Mitsuma},
  journal={Journal of the neurological sciences},
  year={1993},
  volume={117 1-2},
  pages={74-8}
}
Four of 8 definite heterozygous female carriers determined by PCR amplification of tandem CAG repeat of the AR gene, from 4 families of X-linked recessive bulbospinal neuronopathy (X-BSNP) showed extensive high amplitude motor unit potentials in examined muscles although all subjects were neurologically normal. Plasma creatine kinase, myoglobin, myosin light chain, lactate and pyruvate were all normal even in the carriers who showed EMG abnormalities. Muscle biopsy showed a type 2 fiber… CONTINUE READING