Lookup NU author(s): Dr Rita Barresi
Full text for this publication is not currently held within this repository. Alternative links are provided below where available.
© 2017 Elsevier B.V. Mutations in calpain-3 cause limb girdle muscular dystrophy 2A. Biopsy pathology is typically dystrophic, sometimes characterized by frequent lobulated fibres. More recently calpain mutations have been shown in association with eosinophilic myositis, suggesting that calpain mutations may render muscle susceptible to inflammatory change. We present the case of a 33-year old female with mild proximal muscle weakness and high CK levels (6698 IU/L at presentation). Muscle biopsy showed clusters of fibre necrosis associated with very dense macrophage infiltrates and small numbers of lymphocytes, raising the possibility of an inflammatory myopathy. No eosinophils were observed. Immunosuppressive treatment was started without clinical improvement. MRI demonstrated bilateral fatty replacement in posterior thigh and calf muscles. Western blot results prompted Sanger sequencing of the calpain-3 gene revealing compound heterozygous mutations c.643_663del and c.1746-20C>G. Our case widens the myopathological spectrum of calpainopathies to include focal macrophage rich inflammatory change.
Author(s): Schutz PW, Scalco RS, Barresi R, Houlden H, Parton M, Holton JL
Publication type: Article
Publication status: Published
Journal: Neuromuscular Disorders
Print publication date: 01/08/2017
Online publication date: 27/04/2017
Acceptance date: 24/04/2017
ISSN (print): 0960-8966
ISSN (electronic): 1873-2364
Publisher: Elsevier Ltd
Altmetrics provided by Altmetric