Article
Manifestations in a family with autosomal dominant bone fragility and limb-girdle myopathy.
American journal of medical genetics. Part A - 15 Feb 2006
Mehta Sarju G, Watts Giles D J, McGillivray Barbara, Mumm Steven, Hamilton Sara Jane, Ramdeen Sheena, Novack Deborah, Briggs Christine, Whyte Michael P, Kimonis Virginia E
Abstract excerpt
We report on an unusual family with an autosomal dominant limb-girdle type of myopathy and bone fragility. This family was previously reported by Henry et al. [1958] as autosomal dominant progressive limb girdle "muscular dystrophy" with propensity to fractures and defective healing of long bones. Clinical, biochemical, and radiological aspects were evaluated in eight living relatives in this family (three males...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.