Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.
Publication
, Journal Article
Gilchrist, JM; Pericak-Vance, M; Silverman, L; Roses, AD
Published in: Neurology
January 1988
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.
Duke Scholars
Published In
Neurology
DOI
ISSN
0028-3878
Publication Date
January 1988
Volume
38
Issue
1
Start / End Page
5 / 9
Location
United States
Related Subject Headings
- Pedigree
- Neurology & Neurosurgery
- Muscular Dystrophies
- Isoenzymes
- Humans
- Genetic Techniques
- Genetic Linkage
- Genes, Dominant
- Electromyography
- Creatine Kinase
Citation
APA
Chicago
ICMJE
MLA
NLM
Gilchrist, J. M., Pericak-Vance, M., Silverman, L., & Roses, A. D. (1988). Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. Neurology, 38(1), 5–9. https://doi.org/10.1212/wnl.38.1.5
Gilchrist, J. M., M. Pericak-Vance, L. Silverman, and A. D. Roses. “Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.” Neurology 38, no. 1 (January 1988): 5–9. https://doi.org/10.1212/wnl.38.1.5.
Gilchrist JM, Pericak-Vance M, Silverman L, Roses AD. Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. Neurology. 1988 Jan;38(1):5–9.
Gilchrist, J. M., et al. “Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy.” Neurology, vol. 38, no. 1, Jan. 1988, pp. 5–9. Pubmed, doi:10.1212/wnl.38.1.5.
Gilchrist JM, Pericak-Vance M, Silverman L, Roses AD. Clinical and genetic investigation in autosomal dominant limb-girdle muscular dystrophy. Neurology. 1988 Jan;38(1):5–9.
Published In
Neurology
DOI
ISSN
0028-3878
Publication Date
January 1988
Volume
38
Issue
1
Start / End Page
5 / 9
Location
United States
Related Subject Headings
- Pedigree
- Neurology & Neurosurgery
- Muscular Dystrophies
- Isoenzymes
- Humans
- Genetic Techniques
- Genetic Linkage
- Genes, Dominant
- Electromyography
- Creatine Kinase