Article
Mutations in the beta-tropomyosin (TPM2) gene--a rare cause of nemaline myopathy.
Neuromuscular disorders : NMD - 1 Feb 2002
Donner Kati, Ollikainen Miina, Ridanpää Maaret, Christen Hans-Jürgen, Goebel Hans H, de Visser Marianne, Pelin Katarina, Wallgren-Pettersson Carina
Abstract excerpt
Nemaline myopathy is a clinically and genetically heterogeneous muscle disorder. In the nebulin gene we have detected a number of autosomal recessive mutations. Both autosomal dominant and recessive mutations have been detected in the genes for alpha-actin and alpha-tropomyosin 3. A recessive mutation causing nemaline myopathy among the Old Order Amish has recently been identified in the gene for slow skeletal...
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