Associated Papers
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
38544359 (PubMed )
Supplement: ACN3-11-1250-s001.xlsx › Supplementary_Table_1
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1
166th ENMC International Workshop on Collagen type VI-related Myopathies, 22-24 May 2009, Naarden, The Netherlands.
Allamand V et al.
Neuromuscular Disorders : Nmd, 2010
Collagen VI related muscle disorders.
Lampe AK et al.
Journal of Medical Genetics, 2005
Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype.
Scacheri PC et al.
Neurology, 2002
A novel de novo mutation in the triple helix of the COL6A3 gene in a two-generation Italian family affected by Bethlem myopathy. A diagnostic approach in the mutations' screening of type VI collagen.
Pepe G et al.
Neuromuscular Disorders : Nmd, 1999
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