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Muscular Dystrophy, Congenital, Megaconial Type

Known as: MDCMC, MUSCULAR DYSTROPHY, CONGENITAL, WITH MITOCHONDRIAL STRUCTURAL ABNORMALITIES 
National Institutes of Health

Related topics

Related topics

10 relations
Autosomal recessive inheritanceFacial ParesisIchthyosesMental Retardation

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Evidence of involvement of a novel VUS variant in the CHKB gene to congenital muscular dystrophy affection
2019
2019
Functional rescue in a mouse model of congenital muscular dystrophy with megaconial myopathy.
Congenital muscular dystrophy with megaconial myopathy (MDCMC) is an autosomal recessive disorder characterized by progressive… 
2016
2016
Congenital neurogenic muscular atrophy in megaconial myopathy due to a mutation in CHKB gene
2014
2014
Exome sequencing identifies a CHKB mutation in Spanish patient with megaconial congenital muscular dystrophy and mtDNA depletion.
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