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limb-girdle muscular dystrophy type 1A (LGMD1A)
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
Database Correlations
OMIM 159000
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: 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: 1598902
- OMIM :accession 159000