A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene

E. Matsubara, A. Tsuchiya, N. Minami, I. Nishino, Miguel Pappolla, M. Shoji, K. Abe

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

A unique sib pair afflicted by limb girdle muscular dystrophy type 2A (LGMD2A) is described showing a slowly progressive autosomal recessive type of muscular dystrophy with onset in the third and fourth decades. The patients had early asymmetric muscle involvement characterized by prominent biceps brachii atrophy with sparing of the knee extensors. Additional findings included elevation of serum creatine kinase level, myopathic EMG changes and dystrophic type of pathology on muscle biopsy. Asymmetrical wasting of muscles in the extremities exhibited uniform and highly selective CT imaging patterns. RNA and DNA analyses confirmed novel compound heterozygous mutations (R147X/L212F) in the human CAPN3 gene.

Original languageEnglish (US)
Pages (from-to)819-822
Number of pages4
JournalEuropean Journal of Neurology
Volume14
Issue number7
DOIs
StatePublished - Jul 2007
Externally publishedYes

Fingerprint

Muscles
Mutation
Genes
Muscular Dystrophies
Creatine Kinase
Atrophy
Knee
Extremities
RNA
Pathology
Biopsy
DNA
Serum
Limb-girdle muscular dystrophy type 2A

Keywords

  • Asymmetrical muscle atrophy
  • CAPN3 gene
  • Compound heterozygote
  • LGMD2A

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene. / Matsubara, E.; Tsuchiya, A.; Minami, N.; Nishino, I.; Pappolla, Miguel; Shoji, M.; Abe, K.

In: European Journal of Neurology, Vol. 14, No. 7, 07.2007, p. 819-822.

Research output: Contribution to journalArticle

Matsubara, E. ; Tsuchiya, A. ; Minami, N. ; Nishino, I. ; Pappolla, Miguel ; Shoji, M. ; Abe, K. / A unique case of limb-girdle muscular dystrophy type 2A carrying novel compound heterozygous mutations in the human CAPN3 gene. In: European Journal of Neurology. 2007 ; Vol. 14, No. 7. pp. 819-822.
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