MYH 3‐associated distal arthrogryposis zebrafish model is normalized with para‐aminoblebbistatin
نویسندگان
چکیده
منابع مشابه
Distal arthrogryposis syndrome
A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyl...
متن کاملAMC: amyoplasia and distal arthrogryposis
Arthrogryposis multiplex congenita (AMC) is a heterogeneous condition defined as multiple congenital joint contractures in two or more body areas. The common pathogenesis is impaired fetal movements. Amyoplasia, the most frequent form, is a sporadically occurring condition with hypoplastic muscles and joint contractures. Distal arthrogryposis (DA) syndromes are often hereditary, and joint invol...
متن کاملThe neuronal endopeptidase ECEL1 is associated with a distinct form of recessive distal arthrogryposis.
Distal arthrogryposis (DA) is a heterogeneous subgroup of arthrogryposis multiplex congenita (AMC), a large family of disorders characterized by multiple congenital joint limitations due to reduced fetal movements. DA is mainly characterized by contractures afflicting especially the distal extremities without overt muscular or neurological signs. Although a limited number of genes mostly implic...
متن کاملARTHROGRYPOSIS Causes, Consequences and Clinical Course in Amyoplasia and Distal Arthrogryposis
Background. Arthrogryposis Multiplex Congenita, AMC, is a heterogeneous condition defined as multiple congenital joint contractures in two or more body areas. The pathogenesis is impaired fetal movements. Amyoplasia, the most frequent form, is a sporadically occurring condition with hypoplastic muscles and joint contractures. Distal arthrogryposis (DA) syndromes are often hereditary, and joint ...
متن کاملArthrogryposis multiplex congenital (AMC) in a three year old boy: differential diagnosis with distal arthrogryposis: a case report
INTRODUCTION Arthrogryposis multiplex congenital (AMC) is characterized by contractions of multiple joints present at birth. The involved muscles are partially or totally replaced by fat or fibrous tissue. Talipes equinovarus and scoliosis are also frequently reported. CASE PRESENTATION This 2 year was born after uneventful pregnancy, with normal birth weight and length. The parents are unrel...
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ژورنال
عنوان ژورنال: EMBO Molecular Medicine
سال: 2020
ISSN: 1757-4676,1757-4684
DOI: 10.15252/emmm.202012356