In Autosomal Dominant Inheritance Cgi Id N

In Autosomal Dominant Inheritance Cgi Id N




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The webpage at https://www.ncbi.nlm.nih.gov/medgen/141047 might be temporarily down or it may have moved permanently to a new web address.
The webpage at https://www.ncbi.nlm.nih.gov/medgen/141047 might be temporarily down or it may have moved permanently to a new web address.

The most widely read and highly cited peer-reviewed neurology journal
James M. Gilchrist, Margaret Pericak-Vance, Larry Silverman, Allen D. Roses
First published January 1, 1988, DOI: https://doi.org/10.1212/WNL.38.1.5
Limb-girdle muscular dystrophy is a syndrome of progressive myopathic weakness affecting shoulder and hip girdle and proximal arm and leg muscles. The disease occurs either sporadically or inherited as an autosomal recessive trait. Autosomal dominant inheritance is rare. We report a large family with apparent autosomal dominant inheritance. Sixteen members were affected with a disease characterized by proximal weakness, leg greater than arm, onset in the third decade, elevated CK and CK MB levels, and myopathic EMGs and muscle biopsies. Linkage analysis revealed no conclusive linkage.
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Neurology | Print ISSN:0028-3878
Online ISSN:1526-632X
ยฉ 2021 American Academy of Neurology
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