We have located links that may give you full text access.
CASE REPORTS
JOURNAL ARTICLE
REVIEW
Telethonin-deficiency initially presenting as a congenital muscular dystrophy.
Neuromuscular Disorders : NMD 2011 June
Congenital muscular dystrophies are defined by congenital or infantile onset of muscle weakness; while 12 culprit genes have been identified, many cases remain molecularly uncharacterized. On the other hand, mutations in the telethonin gene (TCAP) have been associated with a rare form of recessive limb girdle muscular dystrophy, usually presenting in the second decade. So far, three different mutations in telethonin have been reported in patients suffering from limb muscular dystrophy type 2G. We have identified a novel telethonin mutation in a child presenting with mildly delayed motor development and muscle weakness from infancy, clinically improving over the first decade, indicative of a CMD. Muscle biopsy showed a dystrophic process, with preserved laminin α2, collagen VI, and α-dystroglycan, but absent telethonin immunolabeling. Sequence analysis of TCAP showed a novel non-sense p.Gln58X (c.172C>T) homozygous mutation. Our observation indicates that telethonin deficiency may present in infancy with clinical features overlapping with mild forms of α-dystroglycanopathy. Therefore telethonin analysis should be performed in patients suffering from congenital muscular dystrophy of unknown cause.
Full text links
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app
All material on this website is protected by copyright, Copyright © 1994-2024 by WebMD LLC.
This website also contains material copyrighted by 3rd parties.
By using this service, you agree to our terms of use and privacy policy.
Your Privacy Choices
You can now claim free CME credits for this literature searchClaim now
Get seemless 1-tap access through your institution/university
For the best experience, use the Read mobile app