Hostname: page-component-745bb68f8f-l4dxg Total loading time: 0 Render date: 2025-01-28T02:12:07.580Z Has data issue: false hasContentIssue false
  • English
  • Français

Early onset calpainopathy with normal non-functional calpain 3 level

Published online by Cambridge University Press:  16 March 2006

R Lanzillo ,
S Aurino ,
M Fanin ,
M Aguennoz ,
F Vitale ,
C Fiorillo ,
E Del Giudice ,
V Nigro  and
L Santoro
R Lanzillo
Affiliation:
Department of Neurological Sciences, Federico II University, Naples, Italy.
S Aurino
Affiliation:
Telethon Institute of Genetic Medicine, Naples, Italy.
M Fanin
Affiliation:
Department of Neurosciences, University of Padua, Padua, Italy.
M Aguennoz
Affiliation:
Neurological Clinic, University of Messina, Messina, Italy.
F Vitale
Affiliation:
Department of Neurological Sciences, Federico II University, Naples, Italy.
C Fiorillo
Affiliation:
Department of Neurological Sciences, Federico II University, Naples, Italy.
E Del Giudice
Affiliation:
Department of Paediatrics, Child Neuropsychiatry Unit, Federico II University, Naples, Italy.
V Nigro
Affiliation:
Telethon Institute of Genetic Medicine, Naples, Italy.
L Santoro
Affiliation:
Department of Neurological Sciences, Federico II University, Naples, Italy.
Get access

Abstract

Limb girdle muscular dystrophy 2A (LGMD2A), caused by calpain 3 deficiency, is currently diagnosed through the immunodetection of muscle protein by Western blot (WB) analysis . However, WB may provide normal results in patients with LGMD2A. The case of a female (3y 6mo of age) is described. She was found to be affected by asymptomatic hypercreatine-kinaesaemia during routine biochemical analysis at 10 months of age and had developed myopathic signs at the last neurological assessment. The WB of muscle biopsy performed at 28 months of age showed a normal quantity and pattern of bands for calpain 3. Despite this finding, on molecular analysis she was found to be a compound heterozygote for two mutations of the calpain 3 (CAPN3) gene (R110X and G222R). Autocatalytic activity assay showed a loss of function of calpain 3. This is the first genetically confirmed case of very early onset calpainopathy with a normal amount of protein at WB. Molecular analysis is also suggested in very young patients with normal WB.

Type
Case Report
Information
Developmental Medicine and Child Neurology , Volume 48 , Issue 4 , April 2006 , pp. 304 - 306
Copyright
2006 Mac Keith Press

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)