Neuromuscul Disord. 1994 May;4(3):263-7.

Two siblings with nemaline myopathy presenting with rigid spine syndrome.

Topaloglu H, Gögüs S, Yalaz K, Kücükali T, Serdaroglu A.

Source

Department of Paediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.

Abstract

Two siblings, ages 20 and 19 presented with more than 10 yr history of spinal rigidity and scoliosis. The parents were first cousins. Muscle biopsies were consistent with nemaline myopathy. This has been the first association between a familial rigid spine syndrome and nemaline myopathy.

Comment in

Neuromuscul Disord. 1995 Jul;5(4):351-2.

PMID:: 7919974; [PubMed - indexed for MEDLINE]

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Cited by 3 PubMed Central articles

Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. [Am J Hum Genet. 2002]
Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.
Ferreiro A, Quijano-Roy S, Pichereau C, Moghadaszadeh B, Goemans N, Bönnemann C, Jungbluth H, Straub V, Villanova M, Leroy JP, et al. Am J Hum Genet. 2002 Oct; 71(4):739-49. Epub 2002 Aug 21.
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36. [Am J Hum Genet. 1998]
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36.
Moghadaszadeh B, Desguerre I, Topaloglu H, Muntoni F, Pavek S, Sewry C, Mayer M, Fardeau M, Tomé FM, Guicheney P. Am J Hum Genet. 1998 Jun; 62(6):1439-45.
Review Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy. [J Med Genet. 1997]
Review Nemaline myopathy: current concepts. The ENMC International Consortium and Nemaline Myopathy.
North KN, Laing NG, Wallgren-Pettersson C. J Med Genet. 1997 Sep; 34(9):705-13.

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