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

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.

Human mutation - 1 Oct 2012

Markus Barak, Narkis Ginat, Landau Daniella, Birk Ruth Z, Cohen Idan, Birk Ohad S

Abstract excerpt

Autosomal recessive lethal congenital contractural syndrome (LCCS) is a severe form of neuromuscular arthrogryposis. We previously showed that this phenotype is caused in two unrelated inbred Bedouin tribes by different defects in the phosphatidylinositol pathway. However, the molecular basis of the same phenotype in other tribes remained elusive. Whole exome sequencing identified a novel LCCS founder mutation...

Read the complete abstract on PubMed

Topics

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

Share to Arthrogryposis
Share to Base Sequence
Share to Carrier Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Lethal

Share to Genes, Recessive

Share to Homozygote

Share to Molecular Sequence Data

Share to Mutation, Missense

Source

Identifiers

PMID: 22610851
DOI: 10.1002/humu.22122

Genes

MYBPC1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Autosomal recessive lethal congenital contractural syndrome type 4 (LCCS4) caused by a mutation in MYBPC1.PMID 22610851Read ↗

Expanding the MYBPC1 phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita.Semantic proximity Read ↗

Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposisSemantic proximity Read ↗

Etiology of genetic muscle disorders induced by mutations in fast and slow skeletal MyBP-C paralogs.Semantic proximity Read ↗

MYBPC1, an Emerging Myopathic Gene: What We Know and What We Need to LearnSemantic proximity Read ↗

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1Semantic proximity Read ↗

Lethal contractural syndrome type 3 (LCCS3) is caused by a mutation in PIP5K1C, which encodes PIPKI gamma of the phophatidylinsitol pathway.Semantic proximity Read ↗

Two novel mutations in myosin binding protein C slow causing distal arthrogryposis type 2 in two large Han Chinese families may suggest important functional role of immunoglobulin domain C2.Semantic proximity Read ↗

ZBTB42 mutation defines a novel lethal congenital contracture syndrome (LCCS6)Semantic proximity Read ↗

Unlocking the Role of sMyBP-C: A Key Player in Skeletal Muscle Development and GrowthSemantic proximity Read ↗

Homozygous loss-of-function variants in FILIP1 cause autosomal recessive arthrogryposis multiplex congenitaSemantic proximity Read ↗

Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fracturesSemantic proximity Read ↗

Bringing into focus the central domains C3-C6 of myosin binding protein CSemantic proximity Read ↗

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