Primary beta-sarcoglycanopathy manifesting as recurrent exercise-induced myoglobinuria

R. Cagliani, G. P. Comi, L. Tancredi, M. Sironi, F. Fortunate, R. Giorda, A. Bardoni, M. Moggio, A. Prelle, N. Bresolin, G. Scarlato

Research output: Contribution to journalArticle

Abstract

We report an unusual presentation of a primary β-sarcoglycanopathy (LGMD type 2E). A 12- year-old boy came to our attention after six episodes of exercise-induced myoglobinuria. Electromyogram showed mild myopathic features of the proximal lower limb muscles. Electrocardiogram was normal. Neurological examination revealed normal muscle strength and reduced deep tendon reflexes. A muscle biopsy showed rare regenerating fibers; the immunohistochemistry was normal for dystrophin, while all the sarcoglycans were diffusely decreased. Western blot analysis showed a relevant decrease of all sarcoglycan proteins and a mild dystrophin reduction. β-Sarcoglycan gene analysis demonstrated a compound heterozygous status for these mutations: a novel A-T base pair substitution at nucleotide 85 in exon 2, changing the codon Arg to a stop codon; a C-T base pair substitution at nucleotide 272 in exon 3 changing a Arg to a Cys residue. We consider that exercise-induced myoglobinuria may be the presenting sign of primary β-sarcoglycanopathy.

Original languageEnglish
Pages (from-to)389-394
Number of pages6
JournalNeuromuscular Disorders
Volume11
Issue number4
DOIs
Publication statusPublished - 2001

    Fingerprint

Keywords

  • Limb girdle muscular dystrophies-2E
  • Myoglobinuria
  • Primary β-sarcoglycanopathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this