Selective pseudohypertrophy of vastus medialis muscles associated with calpain 3 deficiency.

Abstract

INTRODUCTION:

Calpain 3 deficiency causes limb girdle muscular dystrophy type 2A, which is one of the most common forms of limb girdle muscular dystrophy. Nevertheless, calpainopathy is not always associated with mutations in the specific gene and secondary reduction in protein expression has been described.

CASE REPORT:

We report a case of a 43-year-old man who complained of thigh muscle stiffness and had muscle hypertrophy of both vastus medialis with prolonged myotonic contraction by percussion. A muscle biopsy showed dystrophic features and calpain 3 deficiency was shown by immunoblot analysis although mutations in the specific gene were not found. Known cases of secondary calpain 3 protein deficiency were ruled out and mutations in MD1 and MD2 genes were excluded.

CONCLUSIONS:

This patient represents the first case of calpain 3 deficiency with selective pseudohypertrophy of vastus medialis muscles.

• Authors: Gaetano Vattemi, Marcella Neri, Matteo Marini, Francesca Gualandi, Paola Tonin, Laura Bertolasi, Valeria Guglielmi, Claudio Catalli, Giuseppe Novelli, Alessandra Ferlini, Giuliano Tomelleri
• Journal: The neurologist (Neurologist) Vol. 18 Issue 5 Pg. 306-9 (Sep 2012) ISSN: 2331-2637 [Electronic] United States
• PMID: 22931740 (Publication Type: Case Reports, Journal Article)

Chemical References

• Muscle Proteins
• CAPN3 protein, human
• Calpain

Topics

• Adult
• Biopsy
• Calpain (deficiency, genetics)
• Electromyography
• Humans
• Hypertrophy
• Male
• Muscle Proteins (deficiency, genetics)
• Muscular Dystrophies, Limb-Girdle (genetics, pathology, physiopathology)
• Quadriceps Muscle (pathology, physiopathology)