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

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

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

A de novo germline mutation in MYH7 causes a progressive dominant myopathy in pigs

(2012) Leonardo Murgiano et al.   BMC GENETICS

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

Effects of Pathogenic Proline Mutations on Myosin Assembly

(2011) Massimo Buvoli et al.   JOURNAL OF MOLECULAR BIOLOGY

A novel MYH7 mutation occurring independently in French and Norwegian Laing distal myopathy families and de novo in one Finnish patient

(2011) Odile Dubourg et al.   JOURNAL OF NEUROLOGY

Distal myopathy with upper limb predominance caused by filamin C haploinsufficiency

(2011) V. Guergueltcheva et al.   NEUROLOGY

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

(2011) Saida Ortolano et al.   NEUROMUSCULAR DISORDERS

Scoliosis surgery in a patient with “de novo” myosin storage myopathy

(2011) Xenia Stalpers et al.   NEUROMUSCULAR DISORDERS

Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy

(2011) Houman Homayoun et al.   NEUROMUSCULAR DISORDERS

Novel myosin heavy chain immunohistochemical double staining developed for the routine diagnostic separation of I, IIA and IIX fibers

(2010) Olayinka Raheem et al.   ACTA NEUROPATHOLOGICA

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

Mutations at the same amino acid in myosin that cause either skeletal or cardiac myopathy have distinct molecular phenotypes

(2009) Thomas Z. Armel et al.   JOURNAL OF MOLECULAR AND CELLULAR 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

Mutations inTPM3are a common cause of congenital fiber type disproportion

(2008) Nigel F. Clarke et al.   ANNALS OF NEUROLOGY

Myomesin 3, a Novel Structural Component of the M-band in Striated Muscle

(2007) Roman Schoenauer et al.   JOURNAL OF MOLECULAR BIOLOGY