January 2, 2010Human Molecular Genetics

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

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Structured PICO

Population

15 families with distal arthrogryposis type I (DA1), including a five-generation family with 12 affected members, and mouse skeletal muscle models.

Intervention

Genome-wide linkage analysis, sequencing of MYBPC1, and expression of GFP-tagged MYBPC1 constructs in mouse skeletal muscle.

Comparator

Wild-type MYBPC1, non-fused GFP, and MYBPC1 proteins with MYBPC3 substitutions (R326Q, E334K).

Outcome

Identification of the gene responsible for DA1 and its sarcomeric localization.surrogate

MYBPC1 is identified as a novel gene responsible for distal arthrogryposis type 1, with a disease mechanism distinct from cardiac MYBPC3 mutations causing hypertrophic cardiomyopathy.

Authors

CGChristina A. GurnettChildren's Hospital of Philadelphia DDDavid M. DesruisseauWashington University in St. Louis KMKevin McCallWashington University in St. Louis

Discussion

No takes yet. Share an insight, caveat, or question.

Implication

May expand arthrogryposis genetic panels; leaves open distinct MYBPC mechanisms from cardiomyopathy pending human validation.

Cite This Study

Gurnett et al. (2010) studied this question.

synapsesocial.com/papers/6a0a573efdd00ab7863dc913 https://doi.org/10.1093/hmg/ddp587

View Full Paper

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Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

Structured PICO

Discussion

Implication

Cite This Study

Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1

Structured PICO

Discussion

Implication

Cite This Study

Also Consider

Also Consider