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Neuromuscular Disorders : NMD|December 7, 2002
De novo missense mutation in a constitutively expressed exon of the slow alpha-tropomyosin gene TPM3 associated with an atypical, sporadic case of nemaline myopathyH J Durling, P Reilich, J Müller-Höcker, et al.
Neuromuscular Disorders : NMD|March 1, 1995
Alpha-actinin in nemaline bodies in congenital nemaline myopathy: immunological confirmation by light and electron microscopyC Wallgren-Pettersson, B Jasani, G R Newman, et al.
American Journal of Human Genetics|April 1, 1997
Assignment of the mulibrey nanism gene to 17q by linkage and linkage-disequilibrium analysisK Avela, M Lipsanen-Nyman, J Perheentupa, et al.
Neurology|August 28, 2002
Mutations of the slow muscle alpha-tropomyosin gene, TPM3, are a rare cause of nemaline myopathyD Wattanasirichaigoon, K J Swoboda, F Takada, et al.
Neuromuscular Disorders : NMD|August 6, 2003
X-inactivation patterns in carriers of X-linked myotubular myopathyM Kristiansen, G P Knudsen, S M Tanner, et al.
Neuromuscular Disorders : NMD|December 7, 2002
Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivationH Jungbluth, C A Sewry, A Buj-Bello, et al.
Neuromuscular Disorders : NMD|November 1, 1995
A gene for autosomal recessive nemaline myopathy assigned to chromosome 2q by linkage analysisC Wallgren-Pettersson, K Avela, S Marchand, et al.
European Journal of Human Genetics : EJHG|August 22, 2000
Founder effect in spinal and bulbar muscular atrophy (SBMA) in ScandinaviaA Lund, B Udd, V Juvonen, et al.
Human Mutation|May 2, 2000
MTM1 mutations in X-linked myotubular myopathyJ Laporte, V Biancalana, S M Tanner, et al.
Neuromuscular Disorders : NMD|February 13, 2001
Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) geneH Jungbluth, C A Sewry, S C Brown, et al.
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