Toggle Main Menu Toggle Search

Open Access padlockePrints

Conserved expression of truncated telethonin in a patient with limb-girdle muscular dystrophy 2G

Lookup NU author(s): Dr Rita Barresi, Professor Katherine Bushby, Professor Volker Straub

Downloads

Full text for this publication is not currently held within this repository. Alternative links are provided below where available.


Abstract

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.


Publication metadata

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


Altmetrics

Altmetrics provided by Altmetric


Actions

Find at Newcastle University icon    Link to this publication


Share