Milder forms of α-sarcoglicanopathies diagnosed in adulthood by NGS analysis

J Neurol Sci. 2018 Nov 15:394:63-67. doi: 10.1016/j.jns.2018.08.026. Epub 2018 Sep 5.


Introduction: Sarcoglycanopathies (LGMD 2C2F) are a subgroup of limb-girdle muscular dystrophies (LGMD), caused by mutations in sarcoglycan genes. They usually have a childhood onset and rapidly progressive course with loss of ability to walk over 12-16 years.

Methods: Next generation sequencing (NGS) targeted gene panel was performed in three adult patients with progressive muscle weakness in which routine muscle histology and immunohistochemistry were not diagnostic.

Results: Genetic analysis revealed homozygous or compound heterozygous mutations in SGCA gene and Western Blot demonstrated protein reduction confirming the diagnosis of α-sarcoglicanopathy.

Discussion: Our cases evidence that the diagnosis of mild forms of alfa sarcoglicanopathy could be a challenge and suggest the possibility that they could be underdiagnosed. The use of Next generation Sequencing targeted gene panels is very helpful in the diagnosis of these patients.

Keywords: Immunohistochemistry; Limb-girdle muscular dystrophies; Next generation sequencing; SGCA; Sarcoglicanopathies; Western-blot.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Computational Biology
  • Creatine Kinase / blood
  • Female
  • Genetic Testing / methods*
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Middle Aged
  • Muscle, Skeletal / diagnostic imaging
  • Muscle, Skeletal / metabolism
  • Mutation / genetics*
  • Retrospective Studies
  • Sarcoglycanopathies / blood
  • Sarcoglycanopathies / complications
  • Sarcoglycanopathies / diagnosis*
  • Sarcoglycanopathies / genetics*
  • Sarcoglycans / genetics*
  • Sarcoglycans / metabolism


  • Sarcoglycans
  • Creatine Kinase