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

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.

journal_name

J Neurol Sci

journal_title

Journal of the neurological sciences

authors

Sobue G,Doyu M,Kachi T,Yasuda T,Mukai E,Kumagai T,Mitsuma T

doi

10.1016/0022-510x(93)90157-t

subject

Has Abstract

pub_date

1993-07-01 00:00:00

pages

74-8

issue

1-2

eissn

0022-510X

issn

1878-5883

pii

0022-510X(93)90157-T

journal_volume

117

pub_type

杂志文章

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