Novel mutation in the fukutin gene in an Egyptian family with Fukuyama congenital muscular dystrophy and microcephaly

Fukuyama-type congenital muscular dystrophy (FCMD, MIM#253800) is an autosomal recessive disorder characterized by severe muscular dystrophy associated with brain malformations. FCMD is the second most common form of muscular dystrophy after Duchenne muscular dystrophy and one of the most common aut...

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Bibliographic Details
Published in:Gene
Main Authors: Ismail, Samira, Schaffer, Ashleigh E., Rosti, Rasim O., Gleeson, Joseph G., Zaki, Maha S.
Format: Artigo
Language:Inglês
Published: 2014
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Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5226855/
https://ncbi.nlm.nih.gov/pubmed/24530477
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.gene.2014.01.070
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