X-linked Emery-Dreifuss muscular dystrophy and vacuoles: An immunohistochemical characterization

Muscle and Nerve

Volumn 32, Issue 1, 2005, Pages 61-65

  Paradas, Carmen ^a   Márquez, Celedonio ^a   Gallardo, Eduard ^b   De Luna, Noemí ^b   Chinchón, Isidoro ^c   Recan, Dominique ^d   Jiménez, María Dolores ^a   Illa, Isabel ^b  

^a HOSPITAL UNIVERSITARIO DE VALME   (Spain)

^b UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^c HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^d Hôpital Cochin Maternité ^*  (France)

Author keywords

Emerin; Inclusion body myositis; Membrane attack complex; Vacuoles; X linked Emery Dreifuss muscular dystrophy; X linked myopathy

Indexed keywords

AMYLOID; COMPLEMENT MEMBRANE ATTACK COMPLEX; DYSTROPHIN; EMERIN; MEROSIN;

ADULT; ARTICLE; CASE REPORT; CELL NUCLEUS MEMBRANE; CELL VACUOLE; CHROMOSOME XQ; CLINICAL FEATURE; EMERY DREIFUSS MUSCULAR DYSTROPHY; GENE; GENE DELETION; GENETIC ANALYSIS; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; MALE; MUSCLE BIOPSY; MUSCLE CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SARCOLEMMA; SIBLING; STA GENE; X CHROMOSOME LINKAGE;

ADULT; BIOPSY; DYSTROPHIN; GENE DELETION; HUMANS; IMMUNOHISTOCHEMISTRY; LAMININ; MALE; MEMBRANE PROTEINS; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; NUCLEAR PROTEINS; PHENOTYPE; SIBLINGS; THYMOPOIETINS; VACUOLES;

EID: 21444438955     PISSN: 0148639X     EISSN: None     Source Type: Journal    
DOI: 10.1002/mus.20311     Document Type: Article

References (21)

1. Antonarakis SE. Recommendations for a nomenclature system for human gene mutations. Nomenclature Working Group. Hum Mutat 1998;11:1-3.
2. Auranen M, Villanova M, Muntoni F, Fardeau M, Scherer SW, Kalino H, et al. X-linked vacuolar myopathies: two separate loci and refined genetic mapping. Ann Neurol 2000;47:666-669.
3. Bione S, Maestrini E, Rivella S, Mancini M, Regis S, Romeo G, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994;8:323-327.
4. Bione S, Small K, Aksmanovic VM, D'Urso M, Ciccodicola A, Merlini L, et al. Identification of new mutations in the Emery-Dreifuss muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Genet 1995;4:1859-1863.
5. Chabrol B, Figarella-Branger D, Coquet M, Mancini J, Fontan D, Pedespan JM, et al. X-linked myopathy with excessive autophagy: a clinicopathological study of five new families. Neuromuscul Disord 2001;11:376-388.
6. Darnfors C, Larsson HE, Oldfors A, Kyllerman M, Gustavson KH, Bjursell G, et al. X-linked myotubular myopathy: a linkage study. Clin Genet 1990;37:335-340.
7. De Bleecker JL, Engel AG, Winkelmann JC. Localization of dystrophin and beta-spectrin in vacuolar myopathies. Am J Pathol 1993;143:1200-1208.
8. Eisenberg I, Grabov-Nardini G, Hochner H, Korner M, Sadeh M, Bertorini T, et al. Mutations spectrum of GNE in hereditary inclusion body myopathy sparing the quadriceps. Hum Mutat 2003;21:99.
9. Emery AE. Emery-Dreifuss muscular dystrophy-a 40 year retrospective. Neuromuscul Disord 2000;10:228-232.
10. Emery AE, Dreifuss FE. Unusual type of benign X-linked muscular dystrophy. J Neurol Neurosurg Psychiatry 1966;29: 338-342.
11. Fidzianska A, Rowinska-Marcinska K, Hausmanowa-Petrusewicz I. Coexistence of X-linked recessive Emery-Dreifuss muscular dystrophy with inclusion body myositis-like morphology. Acta Neuropathol (Berl) 2004;107:197-203.
12. Kalimo H, Savontaus ML, Lang H, Paljarvi L, Sonninen V, Dean PB, et al. X-linked myopathy with excessive autophagy: a new hereditary muscle disease. Ann Neurol 1988;23:258-265.
13. Kubo S, Tsukahara T, Takemitsu M, Yoon KB, Utsumi H, Nonaka I, et al. Presence of emerinopathy in cases of rigid spine syndrome. Neuromuscul Disord 1998;8:502-507.
14. Manilal S, Recan D, Sewry CA, Hoeltzenbein M, Llense S, Leturcq F, et al. Mutations in Emery-Dreifuss muscular dystrophy and their effects on emerin protein expression. Hum Mol Genet 1998;7:855-864.
15. Minassian BA, Aiyar R, Alic S, Banwell B, Villanova M, Fardeau M, et al. Narrowing in on the causative defect of an intriguing X-linked myopathy with excessive autophagy. Neurology 2002;59:596-601.
16. Muntoni F, Lichtarowicz-Krynska EJ, Sewry CA, Manilal S, Recan D, Llense S, et al. Early presentation of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. Neuromuscul Disord 1998;8:72-76.
17. Vasconcelos OM, Raju R, Dalakas MC. GNE mutations in an American family with quadriceps-sparing IBM and lack of mutations in s-IBM. Neurology 2002;59:1776-1779.
18. Villanova M, Louboutin JP, Chateau D, Eymard B, Sagniez M, Tome FM, et al. X-linked vacuolated myopathy: complement membrane attack complex on surface membrane of injured muscle fibers. Ann Neurol 1995;37:637-645.
19. Villard L, des Portes V, Levy N, Louboutin JP, Recan D, Coquet M, et al. Linkage of X-linked myopathy with excessive autophagy (XMEA) to Xq28. Eur J Hum Genet 2000;8:125-129.
20. Yates JR, Bagshaw J, Aksmanovic VM, Coomber E, McMahon R, Whittaker JL, et al. Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. Neuromuscul Disord 1999;9:159-165.
21. Yates JR, Wehnert M. The Emery-Dreifuss muscular dystrophy mutation database. Neuromuscul Disord 1999;9:199.