MYH7 mutation associated with two phenotypes of myopathy

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (MYH7) Cause Laing Early-Onset Distal Myopathy (MPD1)

Christopher S. Meredith, Ralf Herrmann, Cheryl Parry et al. · The American Journal of Human Genetics · 2004 · 228 citations · Full text

Medicine, Genetics, Molecular Genetics +11

The complete sequence of the human β-myosin heavy chain gene and a comparative analysis of its product

Thomas Jaenicke, K W Diederich, Walter Haas et al. · Genomics · 1990 · 181 citations

Life Sciences, Genetics, Molecular Biology +5

Myosin storage myopathy associated with a heterozygous missense mutation in <i>MYH7</i>

Homa Tajsharghi, Lars‐Eric Thornell, Christopher Lindberg et al. · Annals of Neurology · 2003 · 156 citations

Medicine, Genetics, Molecular Genetics +15

<i>MYH7</i> gene tail mutation causing myopathic profiles beyond Laing distal myopathy

Nuria Muelas, Peter Hackman, H. Luque et al. · Neurology · 2010 · 106 citations

Medicine, Molecular Genetics, Neurology +17