Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

P. Tan; J. Briner; E. Boltshauser; M.R. Davis; S.D. Wilton; K. North; C. Wallgren-Pettersson; N. Laing

doi:10.1016/S0960-8966(99)00053-X

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Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

Journal article

Peer reviewed

Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy

P. Tan, J. Briner, E. Boltshauser, M.R. Davis, S.D. Wilton, K. North, C. Wallgren-Pettersson and N. Laing

Neuromuscular Disorders, Vol.9(8), pp.573-579

1999

DOI: https://doi.org/10.1016/S0960-8966(99)00053-X

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Abstract

The nemaline myopathies are muscle disorders of variable severity and age of onset, with characteristic nemaline bodies in the sarcoplasm. Genes for dominant (NEM1) and recessive (NEM2A) nemaline myopathy have been localised to chromosomes one and two, respectively. A missense mutation in the alpha-tropomyosin gene (TPM3) has been associated with NEM1 in one family. Probands from 76 other nemaline myopathy families have now been screened for TPM3 mutations. One proband, who was not noted to have any weakness neonatally, but who died at 21 months of age, was shown to be homozygous for a single strand conformation polymorphism (SSCP) in skeletal-muscle-specific exon 1 of TPM3. Sequencing revealed homozygosity for a nonsense mutation at codon 31 (CAG to TAG). The patient should have no functioning alpha-tropomyosin slow protein. The nemaline bodies in this patient were exclusively in type one fibres, consistent with the expression of TPM3 only in type one fibres.

Details

Title: Homozygosity for a nonsense mutation in the alpha-tropomyosin slow gene TPM3 in a patient with severe infantile nemaline myopathy
Authors/Creators: P. Tan (Author/Creator) - Queen Elizabeth II Medical Centre
J. Briner (Author/Creator) - University Hospital of Zurich
E. Boltshauser (Author/Creator) - University Children's Hospital Zurich
M.R. Davis (Author/Creator) - Royal Perth Hospital
S.D. Wilton (Author/Creator) - Queen Elizabeth II Medical Centre
K. North (Author/Creator) - Sydney Children's Hospital
C. Wallgren-Pettersson (Author/Creator) - University of Helsinki
N. Laing (Author/Creator) - Queen Elizabeth II Medical Centre
Publication Details: Neuromuscular Disorders, Vol.9(8), pp.573-579
Publisher: Elsevier BV
Identifiers: 991005541562407891
Copyright: 1999 Elsevier Science BV
Murdoch Affiliation: Murdoch University
Language: English
Resource Type: Journal article

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.96 Cell Biology; 1.96.492 Myosin
Web Of Science research areas: Clinical Neurology; Neurosciences
ESI research areas: Neuroscience & Behavior