Compton-North congenital myopathy
| Compton-North congenital myopathy | |
|---|---|
| Other names | Myopathy, congenital, Compton-North, MYPCN (abbr.)[1] |
| Specialty | Medical genetics |
Compton-North congenital myopathy, also known as congenital lethal myopathy, Compton-North type, is a rare, fatal genetic disorder of pre-natal onset that results in death shortly after birth and is characterized by fetal akinesia and movement restriction, polyhydramnios, severe hypotonia of neonatal-onset, generalized weakness of the respiratory, bulbar, and skeletal muscles, presence of multiple congenital muscular contractures.[2]
Additional features include premature birth, low birth weight, failure to thrive, abnormal reflexes, scaphocephaly, hypertelorbitism, oval-shaped face, small hands, single transverse palmar crease, high-arched palate, arachnodactyly, and camptodactyly (causing overlapping fingers). Ultrastructural findings include sarcomeric disruptions, Z-band disorganization, and an absence of integrin alpha7, beta2-syntrophin, alpha-dystrobrevin.[3] Only four infants from a heavily consanguineous Egyptian Australian family have been described in the medical literature,[4] and it is caused by homozygous mutations in the CNTN1 gene, located in chromosome 12.[5][6]
The condition wasn't named after the doctors who first discovered the condition, but rather the doctors who first described it in detail: Dr. Alison G. Compton and Dr. Kathryn N. North.[5]
References[edit]
- ^ "UniProt". www.uniprot.org. Retrieved 2022-10-16.
- ^ "Compton-North congenital myopathy (Concept Id: C2675527) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-10-16.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Congenital lethal myopathy, Compton North type". www.orpha.net. Retrieved 2022-10-16.
{{cite web}}: CS1 maint: numeric names: authors list (link) - ^ "Entry - #612540 - MYOPATHY, CONGENITAL, COMPTON-NORTH; MYPCN - OMIM". www.omim.org. Retrieved 2022-10-16.
- ^ a b Compton, Alison G.; Albrecht, Douglas E.; Seto, Jane T.; Cooper, Sandra T.; Ilkovski, Biljana; Jones, Kristi J.; Challis, Daniel; Mowat, David; Ranscht, Barbara; Bahlo, Melanie; Froehner, Stanley C.; North, Kathryn N. (December 2008). "Mutations in contactin-1, a neural adhesion and neuromuscular junction protein, cause a familial form of lethal congenital myopathy". American Journal of Human Genetics. 83 (6): 714–724. doi:10.1016/j.ajhg.2008.10.022. ISSN 1537-6605. PMC 2668069. PMID 19026398.
- ^ "ZFIN Human Disease: Compton-North congenital myopathy". zfin.org. Retrieved 2022-10-16.
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