MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

De novo exonic mutation in MYH7 gene leading to exon skipping in a patient with early onset muscular weakness and fiber-type disproportion

(2016) Sander Pajusalu et al.   NEUROMUSCULAR DISORDERS

A rare mutation in MYH7 gene occurs with overlapping phenotype

(2015) Lucia Ruggiero et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Homozygous MYH7 R1820W mutation results in recessive myosin storage myopathy: Scapuloperoneal and respiratory weakness with dilated cardiomyopathy

(2015) Nur Yüceyar et al.   NEUROMUSCULAR DISORDERS

A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders

(2014) Margherita Mutarelli et al.   BMC GENOMICS

Novel Mutations Widen the Phenotypic Spectrum of Slow Skeletal/β-Cardiac Myosin (MYH7) Distal Myopathy

(2014) Phillipa J. Lamont et al.   HUMAN MUTATION

Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation

(2014) Josef Finsterer et al.   NEUROMUSCULAR DISORDERS

MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples

(2014) Marco Savarese et al.   Acta Neuropathologica Communications

A novel MYH7 mutation with prominent paraspinal and proximal muscle involvement

(2013) Jin-Mo Park et al.   NEUROMUSCULAR DISORDERS

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

(2013) Nigel F. Clarke et al.   NEUROMUSCULAR DISORDERS

Myosinopathies: pathology and mechanisms

(2012) Homa Tajsharghi et al.   ACTA NEUROPATHOLOGICA

Muscle MRI in TRPV4-related congenital distal SMA

(2012) G. Astrea et al.   NEUROLOGY

New phenotype and pathology features in MYH7-related distal myopathy

(2012) Giorgio Tasca et al.   NEUROMUSCULAR DISORDERS

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

(2012) T. Cullup et al.   NEUROMUSCULAR DISORDERS

Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients

(2011) N Muelas et al.   CLINICAL GENETICS

Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in italian patients with hypertrophic cardiomyopathy

(2011) Roberta Roncarati et al.   JOURNAL OF CELLULAR PHYSIOLOGY

Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice

(2011) S. Fokstuen et al.   JOURNAL OF MEDICAL GENETICS

A novel MYH7 mutation links congenital fiber type disproportion and myosin storage myopathy

(2011) Saida Ortolano et al.   NEUROMUSCULAR DISORDERS

Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy

(2011) Houman Homayoun et al.   NEUROMUSCULAR DISORDERS

Muscle Imaging in Congenital Myopathies

(2011) Susana Quijano-Roy et al.   Seminars in Pediatric Neurology

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy

(2010) N. Muelas et al.   NEUROLOGY

Cardiomyopathy: A Systematic Review of Disease-Causing Mutations in Myosin Heavy Chain 7 and Their Phenotypic Manifestations

(2009) R. Walsh et al.   CARDIOLOGY

Striking phenotypic variability in two familial cases of myosin storage myopathy with a MYH7 Leu1793pro mutation

(2009) Emmanuelle Uro-Coste et al.   NEUROMUSCULAR DISORDERS

165th ENMC International Workshop: Distal myopathies 6–8th February 2009 Naarden, The Netherlands

(2009) B. Udd   NEUROMUSCULAR DISORDERS

Coding Sequence Mutations Identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 Patients with Familial or Idiopathic Dilated Cardiomyopathy

(2008) Ray E. Hershberger et al.   CTS-Clinical and Translational Science