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Article

Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.

Neurology - 26 Feb 2002

Scacheri P C, Gillanders E M, Subramony S H, Vedanarayanan V, Crowe C A, Thakore N, Bingler M, Hoffman E P

Abstract excerpt

OBJECTIVE: To investigate the molecular basis of autosomal dominant limb-girdle muscular dystrophy (AD-LGMD) in three large new families. METHODS AND RESULTS: Genome-wide linkage was performed to show that the causative gene in all three families localized to chromosome 21q22.3 (Zmax = 10.3; theta = 0). This region contained the collagen VI alpha1 and alpha2 genes, which have been previously shown to harbor...

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Identifiers

PMID: 11865138
DOI: 10.1212/wnl.58.4.593

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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