Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.

BMC medical genetics - 12 Aug 2016

Feinstein-Linial Miora, Buvoli Massimo, Buvoli Ada, Sadeh Menachem, Dabby Ron, Straussberg Rachel, Shelef Ilan, Dayan Daniel, Leinwand Leslie Anne, Birk Ohad S

Abstract excerpt

BACKGROUND: Human skeletal muscles express three major myosin heavy chain (MyHC) isoforms: MyHCIIx (MYH1) in fast type 2B muscle fibers, MyHCIIa (MYH2) in fast type 2A fibers and MyHCI/β-cardiac MyHC (MYH7) in slow type I skeletal fibers and cardiac ventricles. In line with its expression pattern, MYH7 mutations have been reported in association with hypertrophic or dilated cardiomyopathy, skeletal myopathies or...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiac Myosins
Share to Chlorocebus aethiops

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Contracture

Share to COS Cells

Share to Distal Myopathies

Share to Myosin Heavy Chains

Share to Proline

Source

Open in PubMed Open full text

Identifiers

PMID: 27519903
DOI: 10.1186/s12881-016-0315-1
PMCID: PMC4982306

Genes

MYH7
MYH1
MYH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Two novel MYH7 proline substitutions cause Laing Distal Myopathy-like phenotypes with variable expressivity and neck extensor contracture.PMID 27519903Read ↗

Hereditary myosin myopathies.Semantic proximity Read ↗

Laing Myopathy: Report of 4 New Families With Novel MYH7 Mutations, Double Mutations, and Severe Phenotype.Semantic proximity Read ↗

A novel MYH7 Leu1453pro mutation resulting in Laing distal myopathy in an Irish family.Semantic proximity Read ↗

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).Semantic proximity Read ↗

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.Semantic proximity Read ↗

Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutationsSemantic proximity Read ↗

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.Semantic proximity Read ↗

New phenotype and pathology features in MYH7-related distal myopathy.Semantic proximity Read ↗

MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.Semantic proximity Read ↗

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.Semantic proximity Read ↗

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.Semantic proximity Read ↗

Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.