Article
Neurosensory hearing loss in secondary adhalinopathy.
Neuropediatrics - 1 Feb 1996
Oexle K, Herrmann R, Dodé C, Leturcq F, Hübner C, Kaplan J C, Mizuno Y, Ozawa E, Campbell K P, Voit T
Abstract excerpt
We report mild-to-moderate neurosensory hearing loss and severe childhood autosomal recessive muscular dystrophy with adhalin-deficiency in two siblings from a Bulgarian sibship of Turkish origin. Microsatellite analysis excluded linkage to the adhalin gene, mutations of which cause limb girdle muscular dystrophy (LGMD) 2D, but was compatible with linkage to the gene locus of LGMD 2C on chromosome 13q12. Compound...
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