Expanding the Spectrum of Congenital Myopathy Linked to Variants in the <i>MYBPC1</i> Gene-Reference-Cited by-同舟云学术

Expanding the Spectrum of Congenital Myopathy Linked to Variants in the MYBPC1 Gene

Published:2024-06 Issue:3 Volume:14 Page:
ISSN:2163-0402
Container-title:Neurology Clinical Practice
language:en
Short-container-title:Neur Clin Pract

Author:

Lanvin Pierre-Louis¹^ORCID,Li Dong¹^ORCID,Conrad Solène¹^ORCID,Magot Armelle¹^ORCID,Micaelli Xavier¹,Péréon Yann¹^ORCID,Vincent Marie¹^ORCID,Isidor Bertrand¹^ORCID,Sternberg Damien¹^ORCID,McCormick Elizabeth M.¹^ORCID,Hakonarson Hakon¹^ORCID,Mercier Sandra¹^ORCID,Falk Marni J.¹^ORCID

Affiliation:

1. CHU Nantes (P-LL, SC, MV, BI, SM), Department of Medical Genetics, France; The Center for Applied Genomics (DL, HH); Division of Human Genetics (DL, HH); Department of Pediatrics (DL, HH, MJF), Perelman School of Medicine, Children's Hospital of Philadelphia, University of Pennsylvania, Philadelphia, PA; CHU Nantes (AM, YP), Department of Clinical Neurophysiology; Reference Centre for Neuromuscular Disorders AOC (AM, YP, SM), Filnemus, Euro-NMD, Nantes; CHD Vendée (XM), Service de Pédiatrie, La...

Publisher

Ovid Technologies (Wolters Kluwer Health)

Link

https://www.neurology.org/doi/pdfdirect/10.1212/CPJ.0000000000200228

Reference7 articles.

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

2. Expanding theMYBPC1phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita

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

4. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

5. Novel mutations in MYBPC1 are associated with myogenic tremor and mild myopathy