Rare variant in LAMA2 gene causing congenital muscular dystrophy in a Sudanese family. A case report

Congenital muscular dystrophies (CMD) are a heterogeneous group of disorders caused by mutations in musculoskeletal proteins. The most common type of CMD in Europe is Merosin-deficient CMD caused by mutations in laminin-α2 protein. Very few studies reported pathogenic variants underlying these disor...

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Podrobná bibliografie
Vydáno v:Acta Myol
Hlavní autoři: AMIN, MUTAZ, BAKHIT, YOUSUF, KOKO, MAHMOUD, IBRAHIM, MOHAMED OSAMA MIRGAHNI, SALIH, MA, IBRAHIM, MUNTASER, SEIDI, OSHEIK A
Médium: Artigo
Jazyk:Inglês
Vydáno: Pacini Editore srl 2019
Témata:
Case Reports
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC6598405/
https://ncbi.nlm.nih.gov/pubmed/31309178
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