Myopathies caused by homozygous titin mutations: limb-girdle muscular dystrophy 2J and variations of phenotype. Issue 11 (22nd June 2010)

• Record Type: Journal Article
• Authors: Pénisson-Besnier, I; Hackman, P; Suominen, T; Sarparanta, J; Huovinen, S; Richard-Crémieux, I; Udd, B
• Is Part Of: Journal of neurology, neurosurgery and psychiatry. Volume 81:Issue 11(2010)
• Page Start: 1200
• Page End: 1202
• Publication Date: 2010-06-22
• Subjects: Limb-girdle muscular dystrophy 2J -- tibial muscular dystrophy -- titin -- TTN mutation -- distal myopathies -- muscular dystrophy -- myopathy; Neurology -- Periodicals; Nervous system -- Surgery -- Periodicals; Psychiatry -- Periodicals; 616.8
• DOI: 10.1136/jnnp.2009.178434
• Languages: English
• ISSNs: 0022-3050

Abstract

Abstract : Limb-girdle muscular dystrophy 2J caused by mutations in C-terminal titin has so far been identified in Finnish patients only. This may in part be due to limited availability of diagnostic tests for titin defects. In this report, a French family with an autosomal-dominant late-onset distal myopathy of the tibial muscular dystrophy phenotype segregating in several members of the family was described. One deceased patient in the family proved to be homozygous for the C-terminal truncating titin mutation because of consanguinity. According to available medical records, the patient had a clearly more severe generalised muscle weakness and atrophy phenotype not recognised as a distal myopathy at the time. Autopsy findings in one of the original Finnish limb-girdle muscular dystrophy 2J patients were reported and the early phenotype in a newly identified young patient with homozygous Finnish C-terminal titin mutation (FINmaj) was detailed.