Delta-sarcoglycanopathy: Case report and review of literature [Delta-sarcoglicanopatía: Reporte de un caso y revisión de la literatura] Article uri icon

abstract

  • Muscular dystrophies are one of the disorders in the general neurologist has diagnostic difficulties and the need for expensive laboratory test results and specific training. The divulgation of rare cases is necessary to increase the knowledge in this area. We report the case of a female patient fourth decade of life with chronic neuromuscular disease, we performed clinical examination, biopsy, immunohistochemistry, electrophysiology and molecular studies, obtaining a diagnosis of deltasarcoglycanopathy.

publication date

  • 2011-01-01