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

Lidia Gonzalez-Quereda, Eduard Gallardo, Ana Töpf, Alicia Alonso-Jimenez, Volker Straub, Maria Jose Rodriguez, Cinta Lleixa, Isabel Illa, Pia Gallano, Jordi Diaz-Manera

Research output: Contribution to journalArticleResearchpeer-review

7 Citations (Scopus)

Abstract

© 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.
Original languageEnglish
Pages (from-to)633-638
JournalNeuromuscular Disorders
Volume28
Issue number8
DOIs
Publication statusPublished - 1 Aug 2018

Keywords

  • Axial myopathy
  • NGS
  • SGCA
  • Sarcoglycans

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