Journal article

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, MR Davis, SD Wilton, K North, C Wallgren-Pettersson, NG Laing

Neuromuscular Disorders | PERGAMON-ELSEVIER SCIENCE LTD | Published : 1999

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

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Keywords

Mutation
Clinical Neurology
Male
Muscle
Homozygote
Netherlands
Recessive Nemaline Myopathy
Myopathies, Nemaline
Naarden
Skeletal
Alpha-Tropomyosin Slow Nonsense Mutation Recessive Nemaline Myopathy
Infant
Nonsense Mutation
Genetic Testing
Humans
Alpha-Tropomyosin Slow
Neurosciences & Neurology
Mutation, Missense
Retinitis-Pigmentosa
Science & Technology
Tropomyosin
Muscle, Skeletal
Genetic Variation
Dna
Neurosciences
Fatal Outcome
Life Sciences & Biomedicine
Rhodopsin Gene
International Workshop