Article
Muscle pathology in 31 patients with calpain 3 gene mutations..
Neurologia i neurochirurgia polska - 1 Jan 2000
Nadaj-Pakleza Aleksandra A, Dorobek M, Nestorowicz K, Ryniewicz B, Szmidt-Sałkowska E, Kamińska A M
Abstract excerpt
BACKGROUND AND PURPOSE: At present, more than 20 different forms of limb-girdle muscular dystrophies (LGMDs) are known (at least 7 autosomal dominant and 14 autosomal recessive). Although these different forms show some typical phenotypic characteristics, the existing clinical overlap makes their differential diagnosis difficult. Limb-girdle muscular dystrophy type 2 (LGMD2A) is the most prevalent LGMD in many...
Topics
- Adolescent
- Biopsy
- Blotting, Western
- Brain
- Calpain
- Child
- Child, Preschool
- Female
- Humans
- Immunohistochemistry
- Male
- Muscle Proteins