limb-girdle muscular dystrophy type 1A (LGMD1A)
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Pathology
- affected muscle exhibits disorganization & streaming of the Z-line
Genetics
- associated with defects in myotilin gene
Clinical manifestations
- mean age of onset 28 years
- progressive skeletal muscle weakness of the hip & shoulder girdles
- later progressing to include distal weakness & distinctive dysarthric pattern of speech
More general terms
References
- ↑ Lim LE et al Beta-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12. Nat Genet 11:257-265 1995 PMID: https://www.ncbi.nlm.nih.gov/pubmed/7581448
Speer MC et al Confirmation of genetic heterogeneity in limb-girdle muscular dystrophy: linkage of an autosomal dominant form to chromosome 5q. Am J Hum Genet 50:1211-7 1992 PMID: https://www.ncbi.nlm.nih.gov/pubmed/1598902 - ↑ OMIM https://mirror.omim.org/entry/159000