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Lookup NU author(s): Dr Rita Barresi, Emerita Professor Katherine Bushby, Professor Volker StraubORCiD
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Limb-girdle muscular dystrophy 2G is caused by mutations in the TCAP gene that encodes for telethonin. Here we describe a 49 year-old male patient of Indian descent presenting a classical LGMD phenotype. He had normal motor milestones but became noticeably slower in his early teens and was wheelchair bound by age 44. The muscle biopsy showed myopathic features and absence of labeling with an antibody to the C-terminal portion of telethonin. Sequence analysis of the TCAP gene revealed a novel homozygous mutation in exon 2, predicted to generate a truncated protein of 81 amino acids. Interestingly, an antibody for the full-length protein showed labeling on sections and a single band of similar to 10 kDa on Western blot. The truncated protein co-localized with filamin C at the Z-line. Our findings indicate that mutant telethonin can be incorporated into the sarcomere and that other LGMD2G patients with retention of telethonin expression may exist. (C) 2014 Elsevier B.V. All rights reserved.
Author(s): Barresi R, Morris C, Hudson J, Curtis E, Pickthall C, Bushby K, Davies NP, Straub V
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Year: 2015
Volume: 25
Issue: 4
Pages: 349-352
Print publication date: 01/04/2015
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier
URL: http://dx.doi.org/10.1016/j.nmd.2014.12.006
DOI: 10.1016/j.nmd.2014.12.006
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