These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: The phenotype of calpainopathy: diagnosis based on a multidisciplinary approach.
    Author: Pollitt C, Anderson LV, Pogue R, Davison K, Pyle A, Bushby KM.
    Journal: Neuromuscul Disord; 2001 Apr; 11(3):287-96. PubMed ID: 11297944.
    Abstract:
    Calpainopathy (LGMD2A) is the most common type of autosomal recessive limb-girdle muscular dystrophy. We performed a systematic clinical evaluation in 13 calpainopathy patients from 11 families, with particular attention to the pattern of muscle involvement. Eleven patients had a muscle biopsy with deficiency of calpain 3 on western blotting. The other two patients were not biopsied as they were siblings from the same families. Confirmatory CAPN3 mutations were detected in seven patients. The age at presentation was 2-45 years, wider than previously reported. We confirm the highly characteristic and recognisable phenotype of predominant muscular atrophy with early pelvic girdle involvement, relative sparing of the hip abductors, scapular winging and abdominal laxity. Early primary contractures were also a prominent feature in this group, expanding the breadth of the phenotype. Recognition of the clinical pattern of calpainopathy is of diagnostic significance. It is important, especially in sporadic cases, in targeting and interpreting laboratory investigations in order to provide accurate diagnostic and prognostic information.
    [Abstract] [Full Text] [Related] [New Search]