Identification of a Dutch founder mutation in MUSK causing fetal akinesia deformation sequence

Fetal akinesia deformation sequence (FADS) refers to a clinically and genetically heterogeneous group of disorders with congenital malformations related to impaired fetal movement. FADS can result from mutations in CHRNG, CHRNA1, CHRND, DOK7 and RAPSN; however, these genes only account for a minorit...

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Veröffentlicht in:	European journal of human genetics : EJHG 2015-09, Vol.23 (9), p.1151-1157
Hauptverfasser:	Tan-Sindhunata, M Brigita, Mathijssen, Inge B, Smit, Margriet, Baas, Frank, de Vries, Johanna I, van der Voorn, J Patrick, Kluijt, Irma, Hagen, Marleen A, Blom, Eveline W, Sistermans, Erik, Meijers-Heijboer, Hanne, Waisfisz, Quinten, Weiss, Marjan M, Groffen, Alexander J
Format:	Artikel
Sprache:	eng
Schlagworte:	Acetylcholine Akinesia Alleles Amino Acid Sequence Arthrogryposis - diagnosis Arthrogryposis - genetics Arthrogryposis - pathology Base Sequence Congenital defects Congenital diseases Female Fetus Fetuses Founder Effect Gene Expression Gene Frequency Gene mapping Genes Genes, Lethal Genetic screening Genetic Testing Genetics Genomics Homozygote Humans Kinases Male Molecular Sequence Data Motor Endplate - genetics Motor Endplate - pathology Muscle Cells - metabolism Muscle Cells - pathology Mutation Myocytes Myopathy Nerve endings Netherlands Pedigree Prenatal Diagnosis Primary Cell Culture Protein-tyrosine kinase Receptor density Receptor Protein-Tyrosine Kinases - genetics Receptors, Cholinergic - chemistry Receptors, Cholinergic - genetics Synaptogenesis Tyrosine
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