Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy

Neuromuscular Disorders

Volumn 19, Issue 1, 2009, Pages 26-28

  Makri, Samira ^a   Clarke, Nigel F ^b,c   Richard, Pascale ^b,c,d   Maugenre, Svetlana ^b,c   Demay, Laurence ^d   Bonne, Gisèle ^b,c,d   Guicheney, Pascale ^b,c,d  

^a Etablissement Hospitalier Spécialisé Ali Ait Idir   (Algeria)

^b INSERM   (France)

^c SORBONNE UNIVERSITÉ   (France)

^d PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

Congenital muscular dystrophy; De novo mutation; Germinal mosaicism; L CMD; Lamin A C; LMNA

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CHEST INFECTION; CHILD; CLINICAL FEATURE; DISEASE COURSE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; HETEROZYGOTE; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; LIMB GIRDLE MUSCULAR DYSTROPHY; LUNG FUNCTION TEST; MUSCLE HYPOTONIA; MUSCULAR DYSTROPHY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 58849129009     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.nmd.2008.09.016     Document Type: Article

References (16)

1. Bonne G., Di Barletta M.R., Varnous S., et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 21 (1999) 285-288
2. Broers J.L., Ramaekers F.C., Bonne G., et al. Nuclear lamins: laminopathies and their role in premature ageing. Physiol Rev 86 (2006) 967-1008
3. Muchir A., Bonne G., van der Kooi A.J., et al. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 9 (2000) 1453-1459
4. Bonne G., Mercuri E., Muchir A., et al. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 48 (2000) 170-180
5. Quijano-Roy S., Mbieleu M., Bonnemann C.G., et al. De novo LMNA mutations cause a new form of Congenital Muscular Dystrophy (L-CMD). Ann Neurol 64 (2008) 177-186
6. Lisi M.T., and Cohn R.D. Congenital muscular dystrophies: new aspects of an expanding group of disorders. Biochim Biophys Acta 1772 (2007) 159-172
7. Ben Yaou R., Becane H.M., Demay L., et al. Autosomal dominant limb-girdle muscular dystrophy associated with conduction defects (LGMD1B): a description of 8 new families with the LMNA gene mutations. Rev Neurol (Paris) 161 (2005) 42-54
8. van der Kooi A.J., Bonne G., Eymard B., et al. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology 59 (2002) 620-623
9. Brown C.A., Lanning R.W., McKinney K.Q., et al. Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. Am J Med Genet 102 (2001) 359-367
10. Raffaele D.B., Ricci E., Galluzzi G., et al. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet 66 (2000) 1407-1412
11. Benedetti S., Menditto I., Degano M., et al. Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology 69 (2007) 1285-1292
12. Zlotogora J. Germ line mosaicism. Hum Genet 102 (1998) 381-386
13. Bakker E., Veenema H., den Dunnen J.T., et al. Germinal mosaicism increases the recurrence risk for 'new' Duchenne muscular dystrophy mutations. J Med Genet 26 (1989) 553-559
14. Wuyts W., Biervliet M., Reyniers E., et al. Somatic and gonadal mosaicism in Hutchinson-Gilford progeria. Am J Med Genet A 135 (2005) 66-68
15. Baker N.L., Morgelin M., Peat R., et al. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy. Hum Mol Genet 14 (2005) 279-293
16. Giusti B., Lucarini L., Pietroni V., et al. Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy. Ann Neurol 58 (2005) 400-410