Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy

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http://www.wikidata.org/entity/Q33957091
Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focusA composite approach towards a complete model of the myosin rodHypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.Mutation update: the spectra of nebulin variants and associated myopathies.Long genes and genes with multiple splice variants are enriched in pathways linked to cancer and other multigenic diseases.Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.Myosin Storage Myopathy in C. elegans and Human Cultured Muscle Cells.The Most Prevalent Freeman-Sheldon Syndrome Mutations in the Embryonic Myosin Motor Share Functional Defects.MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.Skeletal muscle fiber type: using insights from muscle developmental biology to dissect targets for susceptibility and resistance to muscle disease.The neuromuscular differential diagnosis of joint hypermobility.The sarcomeric M-region: a molecular command center for diverse cellular processes.Myopathology in congenital myopathies.Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2.Complex sarcolemmal invaginations mimicking myotendinous junctions in a case of Laing early-onset distal myopathy.A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.A1603P and K1617del, Mutations in β-Cardiac Myosin Heavy Chain that Cause Laing Early-Onset Distal Myopathy, Affect Secondary Structure and Filament Formation In Vitro and In Vivo.
P2860

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy

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http://www.wikidata.org/entity/Q33957091
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Novel mutations widen the phen ...... myosin (MYH7) distal myopathy
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Novel mutations widen the phen ...... myosin (MYH7) distal myopathy
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Novel mutations widen the phen ...... myosin (MYH7) distal myopathy
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Novel mutations widen the phen ...... myosin (MYH7) distal myopathy
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Novel mutations widen the phen ...... myosin (MYH7) distal myopathy
@ast
Novel mutations widen the phen ...... myosin (MYH7) distal myopathy
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P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P932
P356
P1433
P1476
Novel mutations widen the phen ...... myosin (MYH7) distal myopathy
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P698
P932