Early onset, autosomal recessive muscular dystrophy with Emery-Dreifuss phenotype and normal emerin expression

Neurology

Volumn 51, Issue 4, 1998, Pages 1116-1120

  Taylor, Jacqueline ^a   Sewry, Caroline A ^a   Dubowitz, Victor ^a   Muntoni, Francesco ^a  

^a HAMMERSMITH HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CREATINE KINASE; DYSTROPHIN; EMERIN; LAMININ; PROTEIN; SARCOGLYCAN; UNCLASSIFIED DRUG;

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CLINICAL ARTICLE; CONTRACTURE; FEMALE; HUMAN; MALE; MUSCLE ATROPHY; MUSCLE RIGIDITY; MUSCULAR DYSTROPHY; ONSET AGE; PHENOTYPE; PRIORITY JOURNAL; SPINE DISEASE;

EID: 0031667161     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.51.4.1116     Document Type: Article

References (31)

1. Emery AEH, Dreifuss FE. Unusual type of benign X-linked muscular dystrophy. J Neurol Neurosurg Psychiatry 1966;29: 338-342.
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. Muntoni F, Lichtarowicz-Krynska E, Sewry CA, et al. Early onset of X-linked Emery-Dreifuss muscular dystrophy resembling limb-girdle muscular dystrophy. Neuromuscul Disord 1998;8:72-76.
4. Bione S, Maestrini E, Rivella S, et al. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy. Nat Genet 1994;8:323-327.
5. Nagano A, Koga R, Ogawa M, et al. Emerin deficiency at the nuclear membrane in patients with Emery-Dreifuss muscular dystrophy. Nat Genet 1996;12:254-259.
6. Emery AEH. Emery-Dreifuss syndrome. J Med Genet 1989; 26:637-641.
7. Miller RG, Layzer RB, Mellenthin MA, Golabi GM, Francoz RA, Mall JC. Emery-Dreifuss muscular dystrophy with autosomal dominant transmission. Neurology 1985;35:1230-1233.
8. Thomas PK, Schott GD, Morgan-Hughes JA. Adult-onset scapuloperoneal myopathy. J Neurol Neurosurg Psychiatry 1975;38:1008-1015.
9. Wilhelmsen KC, Blake DM, Lynch T, et al. Chromosome 12-linked autosomal dominant scapuloperoneal muscular dystrophy. Ann Neurol 1996;39:507-520.
10. Tawil R, Myers GJ, Weiffenbach B, Griggs RC. Scapuloperoneal syndromes: absence of linkage of the 4q35 FSHD locus. Arch Neurol 1995;52:1069-1072.
11. Miyoshi K, Kawai H, Iwasa M, Kusaka K, Nishino H. Autosomal recessive distal muscular dystrophy as a new type of progressive muscular dystrophy: seventeen cases in eight families including an autopsied case. Brain 1986;109:31-54.
12. Welander L. Myopathia distalis tarda hereditaria. Acta Med Scand 1951;141(suppl 264):1-12.
13. Ideta T, Shikai T, Uchino M, Okajima T, Akatsuka M. Distal myopathy: report of 4 cases in two families. Rinsho Shinkeigaku 1973;13:579-586.
14. Isaacs H, Badenhorst ME, Whistler TJ. Autosomal recessive distal myopathy. Clin Pathol 1988;41:188-194.
15. Nonaka I, Sunohara N, Ishiura S, Satoyoshi E. Familial distal myopathy with rimmed vacuole and lamellar (myeloid) body formation. J Neurol Sci 1981;51:141-155.
16. Sasaki K, Mori H, Takahashi K, Nakamura H. Distal myopathy: report of four cases. Rinsho Shinkeigaku 1969;9:627-637.
17. Kuhn E, Schroder JM. A new type of distal myopathy in two brothers. J Neurol 1981;226:181-185.
18. Kinoshita H, Sugai K, Goto Y, Nonaka I. Early-onset distal muscular dystrophy. Brain Dev 1995;17:206-209.
19. Magee KR, De Jong RN. Hereditary distal myopathy with onset in infancy. Arch Neurol 1965;13:387-390.
20. Willebois AEM, Bethlem J, Meyer AEFH, Simons AJR. Distal myopathy with onset in early infancy. Neurology 1968;18: 383-390.
21. Scopetta C, Casali C, La Cesa, et al. Infantile autosomal dominant distal myopathy. Acta Neurol Scand 1995;92:122-126.
22. Bautista J, Rafel E, Castilla JM, et al. Hereditary distal myopathy with onset in early infancy: observation of a family. J Neurol Sci 1978;37:149-158.
23. Topaloglu H, Gogus S, Yalaz K, et al. Two siblings with nemaline myopathy presenting with rigid spine syndrome. Neuromuscul Disord 1994;4:263-267.
24. Echenne B, Astruc J, Brunel D, Pages M, Baldet P, Martinazzo G. Congenital muscular dystrophy and rigid spine syndrome. Neuropediatrics 1983;14:97-101.
25. Dubowitz V. Rigid spine syndrome: a muscle syndrome in search of a name. Proc R Soc Med 1973;66:219-220.
26. Colver AF, Steer CR, Godman MJ, Uttley WS. Rigid spine syndrome and fatal cardiomyopathy. Arch Dis Child 1981;56: 148-151.
27. Jobsis GJ, Keizers H, Vreijling JP, et al. Type VI collagen mutations in Bethlem myopathy: an autosomal dominant myopathy with contractures. Nat Genet 1996;14:113-115.
28. Dubowitz V. Muscle biopsy: a practical approach. 2nd ed. Baillière Tindal, 1995.
29. Tomé FMS, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci Paris 1994;317:351-357.
30. Sewry C, Naom I, D'Alessandro M, Dubowitz V, Muntoni F. Variable clinical phenotype in merosin-deficient congenital muscular dystrophy associated with differential immunolabelling of two fragments of the laminin α2 chain. Neuromuscul Disord 1997;7:169-175.
31. Taylor J, Muntoni F, Robb S, Dubowitz V, Sewry CA. Early-onset autosomal dominant myopathy with rigidity of the spine: a possible role for laminin β1? Neuromuscul Disord 1997;7:211-216.