Clinical and histopathological heterogeneity in patients with 4q35 facioscapulohumeral muscular dystrophy (FSHD)

Neuropathology and Applied Neurobiology

Volumn 30, Issue 2, 2004, Pages 188-191

  Wood Allum, C ^a   Brennan, P ^b   Hewitt, M ^b   Lowe, J ^b   Tyfield, L ^c   Wills, A ^a  

^a QUEEN S MEDICAL CENTRE   (United Kingdom)

^b UNIVERSITY OF NOTTINGHAM   (United Kingdom)

^c SOUTHMEAD HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; AGED; ANAMNESIS; ARTICLE; CHROMOSOME 4Q; CLINICAL ARTICLE; CLINICAL FEATURE; DIAGNOSTIC PROCEDURE; FACIOSCAPULOHUMERAL MUSCULAR DYSTROPHY; FEMALE; GENE DELETION; GENETIC HETEROGENEITY; GENETIC SCREENING; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; LABORATORY TEST; MALE; NEUROLOGIC EXAMINATION; PHYSICAL EXAMINATION; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AGED; CHROMOSOMES, HUMAN, PAIR 4; FEMALE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MICROSCOPY, ELECTRON; MIDDLE AGED; MUSCLE, SKELETAL; MUSCULAR DYSTROPHY, FACIOSCAPULOHUMERAL; PEDIGREE; PHENOTYPE;

EID: 1942534070     PISSN: 03051846     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0305-1846.2003.00520.x     Document Type: Article

References (11)

1. Padberg GW, Lunt PW, Koch M, Harper PS. Facioscapulohumeral muscular dystrophy. In Diagnostic Criteria for Neuromuscular Disorders 2nd edn. Ed. AEH Emery. London: Royal Society of Medicine. 1997; 9-15
2. Wijmenga C, Frants RR, Brouwer OF, Moerer P, Weber JL, Padberg GW. Location of facioscapulohumeral muscular dystrophy on chromosome 4. Lancet 1990; 336: 651-3
3. Van Deutekom JC, Wijmenga C, vanTienhoven EA, Gruter AM, Hewitt JE, Padberg GW, van Ommen GJ, Hofker MH, Frants RR. FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2kb tandemly repeated unit. Hum Mol Genet 1993; 2: 2037-42
4. Gabellini D, Michael R, Green MR, Tupler R. Inappropriate gene activation in FSHD. A repressor complex binds a chromosomal repeat deleted in dystrophic muscle. Cell 2002; 110: 339-48
5. Orrell RW, Tawil R, Forrester J, Kissel JT, Mendell JR, Figlewicz DA. Definitive molecular diagnosis of facioscapulohumeral dystrophy. Neurology 1999; 52: 1822-182
6. Engel AG, Banker BQ. Ultrastructural changes in diseased muscle. In Myology 2nd edn, Vol. 1. Eds AG Engel, C Franzini-Armstrong. New York: McGraw-Hill, 1998; 889-1017
7. Van der Kooi AJ, Visser MC, Rosenberg N, van den Berg-Vos R, Wokke JH, Bakker E, de Visser M. Extension of the clinical range of facioscapulohumeral dystrophy: report of six cases. J Neurol Neurosurg Psychiatry 2000; 69: 114-6
8. Jardine PE, Upadhyaya M, Maynard J, Harper P, Lunt PW. A scapular onset muscular dystrophy without facial involvement: possible allelism with facioscapulohumeral muscular dystrophy. Neuromuscular Disorders 1994; 4: 477-82
9. Wallgren-Pettersson C, Laing NG. Report of the 70th ENMC international workshop: nemaline myopathy. 11-13 June 1999, Naarden, The Netherlands. Neuromuscular Disorders 2000; 10: 299-307
10. Ricci E, Galluzzi G, Deidda G, Cacurri S, Colantoni L, Merico B, Piazzo N, Servidei S, Vigneti E, Pasceri V, Silvestri G, Mirabella M, Mangiola F, Tonali P, Felicetti L. Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of Kpn1 repeats at the 4q35 locus and clinical phenotype. Ann Neurol 1999; 45: 751-7
11. Umapathi T, Chaudhry V, Cornblath D, Drachman D, Griffin J, Kuncl R. Head drop and camptocormia. J Neurol Neurosurg Psychiatry 2002; 73: 1-7