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A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement

Lookup NU author(s): Dr Ana TopfORCiD, Professor Volker StraubORCiD, Professor Jordi Diaz ManeraORCiD


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© 2018 Elsevier B.V.Mutations in the SGCA gene cause limb girdle muscular dystrophy type 2D (LGMD2D). We report a family with three affected siblings with a mild phenotype consisting of late onset glutei and axial muscle weakness produced by a new mutation in the SGCA gene leading to a partial expression of the alpha-sarcoglycan protein. The MRI showed muscle atrophy involving paraspinal, pelvic and thigh muscles and a dystrophic pattern was observed in the muscle biopsy. Exome sequencing revealed a homozygous intronic deletion of SGCA and mRNA analysis showed the presence of three different transcripts. The presence, though in a lower proportion, of wild type transcript leads to a milder presentation of the disease. Although clinical symptoms did not entirely correspond with a sarcoglycanopathy, a compatible muscle MRI drove us to look for changes in the sarcoglycan genes. These cases are an example of how clinical, radiological and pathological data enriches the interpretation of exome analysis.

Publication metadata

Author(s): Gonzalez-Quereda L, Gallardo E, Topf A, Alonso-Jimenez A, Straub V, Rodriguez MJ, Lleixa C, Illa I, Gallano P, Diaz-Manera J

Publication type: Article

Publication status: Published

Journal: Neuromuscular Disorders

Year: 2018

Volume: 28

Issue: 8

Pages: 633-638

Print publication date: 01/08/2018

Online publication date: 12/07/2018

Acceptance date: 07/06/2018

ISSN (print): 0960-8966

ISSN (electronic): 1873-2364

Publisher: Elsevier Ltd


DOI: 10.1016/j.nmd.2018.06.002

PubMed id: 30007747


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