Myosin storage myopathy associated with a heterozygous missense mutation inMYH7
Author:
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Reference26 articles.
1. Comparative sequence analysis of the complete human sarcomeric myosin heavy chain family: implications for functional diversity 1 1Edited by J. Karn
2. Type IIx myosin heavy chain transcripts are expressed in type IIb fibers of human skeletal muscle
3. Autosomal dominant myopathy: Missense mutation (Glu-706 right-arrow Lys) in the myosin heavy chain IIa gene
4. Myosin heavy chain IIa gene mutation E706K is pathogenic and its expression increases with age
5. Familial Hypertrophic Cardiomyopathy
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1. A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy;BMC Cardiovascular Disorders;2023-10-04
2. MYH7 in cardiomyopathy and skeletal muscle myopathy;Molecular and Cellular Biochemistry;2023-04-20
3. Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies;Journal of General Physiology;2022-08-18
4. Miopatie distali;EMC - Neurologia;2022-08
5. Understanding Musculoskeletal Disorders Through Next-Generation Sequencing;JBJS Reviews;2022-04
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