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

@article{citeulike:552426, abstract = {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 preponderance and possible very mild type 2 fiber grouping in a carrier with an EMG abnormality. These results suggest that a mutant AR gene may express subclinical phenotypic manifestations in a subpopulation of the heterozygous females of X-BSNP.}, address = {Fourth Department of Internal Medicine, Aichi Medical University, Japan.}, author = {Sobue, G. and Doyu, M. and Kachi, T. and Yasuda, T. and Mukai, E. and Kumagai, T. and Mitsuma, T.}, citeulike-article-id = {552426}, citeulike-linkout-0 = {http://view.ncbi.nlm.nih.gov/pubmed/8410070}, citeulike-linkout-1 = {http://www.hubmed.org/display.cgi?uids=8410070}, issn = {0022-510X}, journal = {J Neurol Sci}, keywords = {ar, clinical, sbma}, month = {July}, number = {1-2}, pages = {74--78}, posted-at = {2006-03-15 06:53:28}, priority = {1}, title = {Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy.}, url = {http://view.ncbi.nlm.nih.gov/pubmed/8410070}, volume = {117}, year = {1993} }

TY - JOUR ID - citeulike:552426 L3 - citeulike-article-id:552426 N2 - 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 preponderance and possible very mild type 2 fiber grouping in a carrier with an EMG abnormality. These results suggest that a mutant AR gene may express subclinical phenotypic manifestations in a subpopulation of the heterozygous females of X-BSNP. IS - 1-2 JF - J Neurol Sci SN - 0022-510X AD - Fourth Department of Internal Medicine, Aichi Medical University, Japan. EP - 78 TI - Subclinical phenotypic expressions in heterozygous females of X-linked recessive bulbospinal neuronopathy. VL - 117 SP - 74 KW - ar KW - clinical KW - sbma AU - Sobue, G AU - Doyu, M AU - Kachi, T AU - Yasuda, T AU - Mukai, E AU - Kumagai, T AU - Mitsuma, T PY - 1993/07// UR - http://view.ncbi.nlm.nih.gov/pubmed/8410070 ER -