A new phenotype of autosomal dominant nemaline myopathy-Reference-Cited by-同舟云学术

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A new phenotype of autosomal dominant nemaline myopathy

Published:2002-01 Issue:1 Volume:12 Page:13-18
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Gommans I.M.P.,van Engelen B.G.M.,ter Laak H.J.,Brunner H.G.,Kremer H.,Lammens M.,Vogels O.J.M.

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference15 articles.

1. Nemaline myopathy;Wallgren-Pettersson,1997

2. Report of the 70th ENMC International Workshop: Nemaline myopathy, 11–13 June 1999, Naarden, The Netherlands;Wallgren-Pettersson;Neuromusc Disord,2000

3. Assignment of a gene (NEM1) for autosomal dominant nemaline myopathy to chromosome 1;Laing;Am J Hum Genet,1992

4. A mutation in the α tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy;Laing;Nat Genet,1995

5. Homozygosity for a nonsense mutation in the alpha-tropomyosin gene TPM3 in a patient with severe infantile nemaline myopathy;Tan;Neuromusc Disord,1999

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1. A cross-sectional study in 18 patients with typical and mild forms of nemaline myopathy in the Netherlands;Neuromuscular Disorders;2024-10

2. A Likely Pathogenic variant in the KBTBD13 Gene: A Case Series of Three Patients with Nemaline Myopathy Type 6;Journal of Neuromuscular Diseases;2024-09-04

3. Inspiratory Muscle Training in Nemaline Myopathy;Journal of Neuromuscular Diseases;2023-09-08

4. KBTBD13 is a novel cardiomyopathy gene;Human Mutation;2022-11-20

5. Respiratory muscle function in patients with nemaline myopathy;Neuromuscular Disorders;2022-08

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