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FKTN gene

Known as: LGMD2M, FCMD GENE, FCMD 
National Institutes of Health

Related topics

Related topics

2 relations
Fukuyama Type Congenital Muscular DystrophyMUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2012
2012
Absence of Post-phosphoryl Modification in Dystroglycanopathy Mouse Models and Wild-type Tissues Expressing Non-laminin Binding Form of α-Dystroglycan*
Background: The biosynthetic pathway for the ligand-binding moiety of α-dystroglycan, defects in which cause dystroglycanopathy… 
Review
2004
Review
2004
Journey into muscular dystrophies caused by abnormal glycosylation.
An increasing number of genes encoding for putative or demonstrated glycosyltransferases are being associated with muscular… 
Highly Cited
2001
Highly Cited
2001
Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy.
BACKGROUND Fukuyama-type congenital muscular dystrophy (FCMD) is an autosomal recessive disorder characterized by severe… 
1997
1997
Molecular genetic evidence of clinical heterogeneity in Fukuyama-type congenital muscular dystrophy
Abstract Fukuyama-type congenital muscular dystrophy (FCMD) is an autosomal recessive severe muscular dystrophy associated with… 
1997
1997
YAC and cosmid contigs encompassing the Fukuyama-type congenital muscular dystrophy (FCMD) candidate region on 9q31.
Fukuyama-type congenital muscular dystrophy (FCMD), the second most common form of childhood muscular dystrophy in Japan, is an… 
1994
1994
Clinical spectrum and genetic studies of Fukuyama congenital muscular dystrophy.
The association of congenital muscular dystrophy (CMD) with type II lissencephaly and ocular anomalies is found in Fukuyama CMD… 
1993
1993
Fukuyama-type congenital muscular dystrophy and the Walker-Warburg syndrome
1992
1992
Clinical variation within sibships in Fukuyama-type congenital muscular dystrophy
1991
1991
Immunocytochemical analysis of dystrophin in congenital muscular dystrophy
Highly Cited
1982
Highly Cited
1982
Muscle histochemistry in congenital muscular dystrophy with central nervous system involvement
Muscles from 13 patients with clinical characteristics of congenital muscular dystrophy and central nervous system involvement… 
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