A new case of limb girdle muscular dystrophy 2G in a Greek patient, founder effect and review of the literature
Author:
Funder
Telethon
Telethon Genetic Biobanks Network
Eurobiobank
Publisher
Elsevier BV
Subject
Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health
Reference26 articles.
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2. The NH2 terminus of titin spans the Z-disc: its interaction with a novel 19-kD ligand (T-cap) is required for sarcomeric integrity;Gregorio;J Cell Biol,1998
3. TCAP knockdown by RNA interference inhibits myoblast differentiation in cultured skeletal muscle cells;Markert;Neuromuscul Disord,2008
4. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin;Moreira;Nat Genet,2000
5. Depletion of zebrafish Tcap leads to muscular dystrophy via disrupting sarcomere-membrane interaction, not sarcomere assembly;Zhang;Hum Mol Genet,2009
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