Results 151 to 160 of about 13,305 (193)

Proteogenomics of Hypertrophic Cardiomyopathy Reveals Subtype-Specific Therapy. [PDF]

Circ Res
Ma K, Yang J, Guo H, Li P, Li X, Dong Z, Zhang J, Zhang C, Yang P, Hua C, Zhu S, Li G, Zhang J, Ding N, Wang J, Ma XL, Lin Z, Dong J, Li Y, Li Y.   +19 more
europepmc   +1 more source

Symptomatic Distal Myopathy With Cardiomyopathy Due to a MYH7 Mutation

Neuromuscular Disorders, 2007
Mutations in the myosin heavy chain gene (MYH7) can cause several distinct phenotypes depending on the location of the mutation: hypertrophic cardiomyopathy (several exons), myosin storage myopathy (exon 37/39) or Laing distal myopathy (exons 32-36). Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy ...
Sebastiaan Overeem, H J Ter Laak, H J Schelhaas   +2 more
exaly   +5 more sources

Recessive MYH7-Related Myopathy in Two Families [PDF]

Neuromuscular Disorders, 2019
Myopathies due to recessive MYH7 mutations are exceedingly rare, reported in only two families to date. We describe three patients from two families (from Australia and the UK) with a myopathy caused by recessive mutations in MYH7. The Australian family was homozygous for a c.5134C > T, p.Arg1712Trp mutation, whilst the UK patient was compound ...
Nigel G Laing, Monique Ryan, Martijn van de Locht   +2 more
exaly   +5 more sources

Some of the next articles are maybe not open access.

Related searches:

MYH7 in cardiomyopathy and skeletal muscle myopathy

Molecular and Cellular Biochemistry, 2023
Myosin heavy chain gene 7 (MYH7), a sarcomeric gene encoding the myosin heavy chain (myosin-7), has attracted considerable interest as a result of its fundamental functions in cardiac and skeletal muscle contraction and numerous nucleotide variations of MYH7 are closely related to cardiomyopathy and skeletal muscle myopathy.
Yuan, Gao, Lu, Peng, Cuifen, Zhao
openaire   +2 more sources

A Splice Variant of the MYH7 Gene Is Causative in a Family With Isolated Left Ventricular Noncompaction Cardiomyopathy

Genes, 2022
Variants of the MYH7 gene have been associated with a number of primary cardiac conditions, including left ventricular noncompaction cardiomyopathy (LVNC).
Evgenia D Zotova, Alexey N Meshkov, Serguei Koretskiy   +2 more
exaly   +2 more sources

Distal Myopathy With Coexisting Heterozygous TIA1 and MYH7 Variants

Neuromuscular Disorders, 2016
TIA1 mutations cause Welander distal myopathy. MYH7 mutations result in various clinical phenotypes, including Laing distal myopathy and cardiomyopathy. We describe a family with coexisting TIA1 and MYH7 variants. The proband is a 67-year-old woman with easy tripping since childhood and progressive asymmetric distal limb weakness, but no cardiac ...
Margherita Milone, Peter James Dyck, Duygu Selcen   +2 more
exaly   +3 more sources