Article
Genetic identity of Marinesco-Sjögren/myoglobinuria and CCFDN syndromes.
Neurology - 22 Jan 2002
Merlini L, Gooding R, Lochmüller H, Müller-Felber W, Walter M C, Angelicheva D, Talim B, Hallmayer J, Kalaydjieva L
Abstract excerpt
OBJECTIVE AND BACKGROUND: To describe three Gypsy families with Marinesco-Sjögren syndrome (MSS), demyelinating neuropathy, and recurrent episodes of myoglobinuria in five of the six affected subjects. Because these families originated from the same genetically isolated founder population as did patients with congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome, and because the two syndromes have...
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