Oral exfoliative cytology for the non-invasive diagnosis in X-linked Emery-Dreifuss muscular dystrophy patients and carriers

Neuromuscular Disorders

Volumn 8, Issue 2, 1998, Pages 67-71

  Sabatelli, P ^a   Squarzoni, S ^a   Petrini, S ^a   Capanni, C ^b   Ognibene, A ^c   Cartegni, L ^d   Cobianchi, F ^d   Merlini, L ^a   Toniolo, D ^d   Maraldi, N M ^a,c  

^a RIZZOLI ORTHOPAEDIC INSTITUTE   (Italy)

^b UNIVERSITY OF BOLOGNA   (Italy)

^c Laboratorio di Biologia Cellulare e Microscopia Elettronica   (Italy)

^d Ist Genet Biochim ed E   (Italy)

Author keywords

Emerin; Emery Dreifuss muscular dystrophy (EMD); Immunoblotting; Immunohistochemistry; SDS polyacrylamide gel electrophoresis (SDS PAGE)

Indexed keywords

AMINO ACID; EMERIN; MUSCLE PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DIAGNOSTIC ACCURACY; EPITHELIUM CELL; FEMALE; GENETIC DISORDER; HEART ARRHYTHMIA; HEART MUSCLE CONDUCTION DISTURBANCE; HETEROZYGOTE DETECTION; HUMAN; HUMAN CELL; HUMERUS; IMMUNOFLUORESCENCE TEST; IMMUNOHISTOCHEMISTRY; MALE; MOUTH MUCOSA; MUSCLE ATROPHY; MUSCLE BIOPSY; MUSCLE CONTRACTURE; MUSCLE WEAKNESS; MUSCULAR DYSTROPHY; PERONEUS MUSCLE; PRIORITY JOURNAL; PROTEIN DETERMINATION; SKIN BIOPSY; X CHROMOSOME LINKAGE;

ADOLESCENT; ADULT; CASE-CONTROL STUDIES; CHEEK; CHILD; CYTODIAGNOSIS; FEMALE; HETEROZYGOTE DETECTION; HUMANS; LINKAGE (GENETICS); MALE; MIDDLE AGED; MOUTH MUCOSA; MUSCULAR DYSTROPHIES; MUSCULAR DYSTROPHY, EMERY-DREIFUSS; X CHROMOSOME;

EID: 17644430698     PISSN: 09608966     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0960-8966(97)00147-8     Document Type: Article

References (12)

1. [1] Emery AEH, Dreifuss FE. Unusual type of benign X-linked muscular dystrophy. J Neurol Neurosurg Psychiatry 1966;29:338-342.
2. [2] Merlini L, Granata C, Dominici P, Bonfiglioli S. 'Emery-Dreifuss' muscular dystrophy: report of five cases in a family and review of the literature. Muscle Nerve 1986;9:481-485.
3. [3] Bialer MG, McDaniel NL, Kelly TE. Progression of cardiac disease in 'Emery-Dreifuss' muscular dystrophy. Clin Cardiol 1991;14(5): 411-416.
4. [4] Bione S, Small K, Aksmanovic VMA, et al. Identification of new mutations in the 'Emery-Dreifuss' muscular dystrophy gene and evidence for genetic heterogeneity of the disease. Hum Mol Gen 1995;4(10):1859-1863.
5. [5] Online Mendellian inheritance in man (OMIM) home page 1997; http://www3.ncbi.nlm.nih.gov/omim/
6. [6] Bione S, Maestrini E, Rivella S, et al. Identification of a novel X-linked gene responsible for 'Emery-Dreifuss' muscular dystrophy. Nature Genet 1994;8:323-327.
7. [7] Nagano A, Koga R, Ogawa M, et al. Emerin deficiency at the nuclear membrane in patients with 'Emery-Dreifuss' muscular dystrophy. Nature Genet 1996;12:254-259.
8. [8] Manilal S, Nguyen TM, Sewry CA, Morris GE. The 'Emery-Dreifuss' muscular dystrophy protein, emerin, is a nuclear membrane protein. Hum Mol Gen 1996;5:801-808.
9. [9] Manilal S, Sewry CA, Nguyen TM, Muntoni F, Morris GE. Diagnosis of X-linked 'Emery-Dreifuss' muscular dystrophy by protein analysis of leukocytes and skin with monoclonal antibodies. Neuromusc Disord 1997;7:63-66.
10. [10] Mora M, Cartegni L, Di Blasi C, et al. X-Linked 'Emery-Dreifuss' muscular dystrophy can be diagnosed from skin biopsy or blood sample. Ann Neurol 1997;42(2):249-253.
11. [11] Hodgson S, Boswinkel E, Cole C, et al. A linkage study of 'Emery-Dreifuss' muscular dystrophy. Hum Genet 1986;74 (4):409-416.
12. [12] Nigro V, Bruni P, Ciccodicola A, et al. SSCP detection of novel mutations in patients with 'Emery-Dreifuss' muscular dystrophy: definition of a small C-terminal region required for emerin function. Hum Mol Genet 1995;4:2003-2004.