Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior

Author:

Nouri Zahra,Sarmadi Akram,Narrei Sina,Sehhati Mohammadreza,Tabatabaiefar Mohammad AminORCID

Funder

Isfahan University of Medical Sciences

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference50 articles.

1. Sparks SE, Quijano-Roy S, Harper A, Rutkowski A, Gordon E, Hoffman EP, et al. Congenital muscular dystrophy overview. 2012.

2. Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy;Nguyen;Appl Clin Genet,2019

3. Identification of a novel LAMA2 c. 2217G>A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report;El Kadiri;BMC Med Genet,2021

4. Congenital muscular dystrophy with merosin deficiency;Tome;Comptes Rendus de l'Academie des Sciences-Serie III-Sciences de la Vie,1994

5. Mutations in the laminin α2–chain gene (LAMA2) cause merosin–deficient congenital muscular dystrophy;Helbling-Leclerc;Nat Genet,1995

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