Article
Mutation of the slow myosin heavy chain rod domain underlies hyaline body myopathy.
Neurology - 11 May 2004
Bohlega S, Abu-Amero S N, Wakil S M, Carroll P, Al-Amr R, Lach B, Al-Sayed Y, Cupler E J, Meyer B F
Abstract excerpt
OBJECTIVE: To identify the gene and specific mutation underlying hyaline body myopathy in the family studied. METHODS: A microsatellite-based whole genome scan was performed. Linkage analysis assumed autosomal dominant inheritance and equal allele frequencies. A candidate gene approach within the linked interval and direct sequencing were used for mutation detection. RESULTS: Initial analysis indicated a maximum...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.