Preprint Article Version 1 This version is not peer-reviewed

Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma

Ani Taneva
* ,
David Gresham
,
Velina Guergueltcheva
,
Teodora Chamova
,
Veneta Bojinova
,
Mariana Gospodinova
,
Maria Katzarova
,
Radoslav Petkov
,
Thomas Voit
,
Lidia Aneva
,
Ognyan Asenov
,
Bilyana Georgieva
,
Violeta Mihaylova
,
Stoyan Bichev
,
Tihomir Todorov
,
Albena Todorova
,
Luba Kalaydjieva
,
Ivailo Tournev
*
Version 1 : Received: 31 July 2024 / Approved: 2 August 2024 / Online: 2 August 2024 (11:20:37 CEST)

How to cite: Taneva, A.; Gresham, D.; Guergueltcheva, V.; Chamova, T.; Bojinova, V.; Gospodinova, M.; Katzarova, M.; Petkov, R.; Voit, T.; Aneva, L.; Asenov, O.; Georgieva, B.; Mihaylova, V.; Bichev, S.; Todorov, T.; Todorova, A.; Kalaydjieva, L.; Tournev, I. Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma. Preprints 2024, 2024080177. https://doi.org/10.20944/preprints202408.0177.v1 Taneva, A.; Gresham, D.; Guergueltcheva, V.; Chamova, T.; Bojinova, V.; Gospodinova, M.; Katzarova, M.; Petkov, R.; Voit, T.; Aneva, L.; Asenov, O.; Georgieva, B.; Mihaylova, V.; Bichev, S.; Todorov, T.; Todorova, A.; Kalaydjieva, L.; Tournev, I. Phenotypic Variability of LGMD 2C/R5 in a Genetically Homogenous Group of Bulgarian Muslim Roma. Preprints 2024, 2024080177. https://doi.org/10.20944/preprints202408.0177.v1

Abstract

Sarcoglycanopathies are among the most frequent and severe autosomal recessive forms of limb-girdle muscular dystrophies /LGMD/ with childhood onset. Mutations in , , and sarcoglycan genes lead to various kinds of LGMD. We present the clinical variability of LGMD 2C/R5 among a genetically homogeneous group of 56 patients, belonging to 35 pedigrees. Molecular genetic analysis showed thаt all 57 patients were homozygous for C283Y variant. The muscles of the pelvic girdle and the trunk were early and more severely affected, followed by the the shoulder girdle. Macroglossia, hypertrophy of the calves, scapular winging and lumbar hyperlordosis were common in the ambulatory phase. A great variability in the clinical presentation of LGMD 2C/R5 was observed both intra and interfamilial, despite the same underlying molecular defect. Females demonstrated a relatively milder clinical course, compared to males. Mean CK levels were 20 times above normal values. Muscle CT of MRI showed earlier and more severe involvement of the flexor proximal limb muscles in comparison to the extensor ones.

Keywords

LGMD 2C/R5; gamma-sarcoglycanopathy; Bulgarian Muslim Roma

Subject

Medicine and Pharmacology, Neuroscience and Neurology

Copyright: This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Download PDF

Comments (0)

We encourage comments and feedback from a broad range of readers. See criteria for comments and our Diversity statement.

Leave a public comment
Send a private comment to the author(s)
* All users must log in before leaving a comment
Views 0
Downloads 0
Comments 0
Metrics 0
Get PDF Cite Share 0
Bookmark BibSonomy Mendeley Reddit Delicious
×
Alerts
Notify me about updates to this article or when a peer-reviewed version is published.
We use cookies on our website to ensure you get the best experience.
Read more about our cookies here.