Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
6041297 | Neuromuscular Disorders | 2014 | 6 Pages |
Abstract
One patient had nemaline myopathy and fiber size disproportion, while three patients had congenital fiber type disproportion (CFTD) on muscle biopsies. TPM2-related CFTD has only been described in two cases, indicating that mutations in TPM2 are rare causes of CFTD.
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Authors
Gülsenay Citirak, Nanna Witting, Morten Duno, Ulla Werlauff, Helle Petri, John Vissing,