Myopathies caused by homozygous titin mutations: Limb-girdle muscular dystrophy 2J and variations of phenotype

Journal of Neurology, Neurosurgery and Psychiatry

Volumn 81, Issue 11, 2010, Pages 1200-1202

  Pénisson Besnier, Isabelle ^a   Hackman, P ^b   Suominen, T ^c   Sarparanta, J ^d   Huovinen, S ^d   Richard Cremieux I ^a   Udd, B ^b,c,d  

^a ANGERS UNIVERSITY HOSPITAL   (France)

^b UNIVERSITY OF HELSINKI   (Finland)

^c TAMPERE UNIVERSITY HOSPITAL   (Finland)

^d VAASA CENTRAL HOSPITAL   (Finland)

Author keywords

[No Author keywords available]

Indexed keywords

CONNECTIN; CREATINE KINASE;

ALLELE; ARTICLE; AUTOPSY; AUTOSOMAL DOMINANT DISORDER; CARBOXY TERMINAL SEQUENCE; CASE REPORT; CHILD; CODON; CONSANGUINITY; CONTRACTURE; DIAGNOSTIC TEST; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC VARIABILITY; HUMAN; LIMB WEAKNESS; MUSCLE STRENGTH; MUSCULAR DYSTROPHY; MYOPATHY; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PRIORITY JOURNAL; SCHOOL CHILD; TENDON REFLEX;

AGED, 80 AND OVER; CHILD; FATAL OUTCOME; FEMALE; FINLAND; FRANCE; HOMOZYGOTE; HUMANS; MALE; MIDDLE AGED; MUSCLE PROTEINS; MUSCULAR DYSTROPHIES, LIMB-GIRDLE; PEDIGREE; PHENOTYPE; POINT MUTATION; PROTEIN KINASES; PROTEIN STRUCTURE, TERTIARY;

EID: 78149238592     PISSN: 00223050     EISSN: 1468330X     Source Type: Journal    
DOI: 10.1136/jnnp.2009.178434     Document Type: Article

References (12)

1. Hackman P, Vihola A, Haravuori H, et al. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin. Am J Hum Genet 2002;71:492-500.
2. Udd B, Vihola A, Sarparanta J, et al. Titinopathies and extension of the M-line mutation phenotype beyond distal myopathy and LGMD2J. Neurology 2005;64:636-42. (Pubitemid 40261891)
3. Lange S, Xiang F, Yakovenko A, et al. The kinase domain of titin controls muscle gene expression and protein turnover. Science 2005;308:1599-603.
4. Carmignac V, Salih MA, Quijano-Roy S, et al. C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy. Ann Neurol 2007;61:340-51.
5. Hackman P, Marchand S, Sarparanta J, et al. Truncating mutations in C-terminal titin may cause more severe tibial muscular dystrophy (TMD). Neuromuscul Disord 2008;18:922-8.
6. de Sèze J, Udd B, Haravuori H, et al. The first European family with tibial muscular dystrophy outside the Finnish population. Neurology 1998;51:1746-8.
7. Van den Bergh P, Bouquiaux O, Verellen C, et al. Tibial muscular dystrophy in a Belgian family. Ann Neurol 2003;54:248-51. (Pubitemid 36909625)
8. Pardal-Fernandez JM, Jerez-Garcia P, Rallo-Gutierrez B, et al. Tibial muscular dystrophy with adult late onset in a Spanish family. Electromyogr Clin Neurophysiol 2005;45:285-90. (Pubitemid 41358613)
9. Udd B, Kääriäinen H, Somer H. Muscular dystrophy with separate phenotypes in a large family. Muscle Nerve 1991;14:1050-8.
10. Udd B. Limb-girdle type muscular dystrophy in a large family with distal myopathy: homozygous manifestation of a dominant gene? J Med Genet 1992;29:383-9.
11. Udd B, Rapola J, Nokelainen P, et al. Nonvacuolar myopathy in a large family with both late adult onset distal myopathy and limb-girdle type muscular dystrophy. J Neurol Sci 1992;113:214-21. (Pubitemid 23000569)
12. Haravuori H, Vihola A, Straub V, et al. Secondary calpain3 deficiency in 2q-linked muscular dystrophy: titin is the candidate gene. Neurology 2001;56:869-77.