Genetic Glyco-Diseases Ontology (GGDonto)
Concept UI CON00379 (Tree)
Name Muscular dystrophy, limb-girdle, type 2M
Aliases FKTN-CDG (cong. muscular dystrophy spectrum)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4 (MDDGC4)
Limb-girdle muscular dystrophy type 2M (LGMD2M)
Disease name:　Preferred Term MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 4
Disease name:　Preferred Term ABBR MDDGC4
Disease name:　Synonyms (from OMIM and MeSH) LGMD2M
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2M
Limb-girdle muscular dystrophy type 2M
UMLS CUI C1969040
UMLS SAB MeSH (SCR)
UMLS CODE C566912
OMIM DATA:　Gene FKTN
OMIM DATA:　Gene Number 607440
OMIM DATA:　Phenotype Number 611588
Symptoms, signs and abnormal clinical and laboratory findings
  • Contracture
  • Heart Diseases
  • Joint Diseases
  • Mental Disorders Diagnosed in Childhood
  • Mobility Limitation
  • Motor Skills Disorders
  • Muscle Hypotonia
  • Muscle Weakness
  • Muscular Atrophy (Muscle wasting)
  • Muscular Diseases
  • Neuromuscular Manifestations
  • Signs and Symptoms
  • Spinal Curvatures
  • Cardiomyopathies
  • Lordosis
  • Muscular Disorders, Atrophic
  • Muscular Dystrophies
References
  • Freeze HH (2006) Genetic defects in the human glycome. Nat Rev Genet 7(7):537-551.
  • Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds) (1993-) GeneReviews. University of Washington, Seattle. ISSN:2372-0697. Sparks SE, Krasnewich DM (2014) Congenital Disorders of N-linked Glycosylation Pathway Overview. Initial Posting: 15 Aug 2005, Last Revision: 30 Jan 2014, Accessed 22 Feb 2016.
  • Jaeken J, Hennet T, Freeze HH, Matthijs G (2008) On the nomenclature of congenital disorders of glycosylation. J Inherit Metab Dis 31(6):669-672.
  • Kamerling JP (ed) (2007) Comprehensive Glycoscience. From Chemistry to Systems Biology. Elsevier, Oxford. ISBN:9780444527462.
  • Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826.
  • Varki A, Cummings RD, Esko JD, Freeze HH, Stanley P, Bertozzi CR, Hart GW, Etzler ME (eds) (2009) Essentials of glycobiology, 2nd ed. Cold Spring Harbor Laboratory Press, New York. ISBN:9780879697709. Freeze HH (2009) Genetic disorders of glycan degradation. pp 567-583.
  • Jaeken J, Hennet T, Matthijs G, Freeze HH (2009) CDG nomenclature: Time for a change. Biochim Biophys Acta 1792(9):825-826. Table 1 Proposed nomenclature for CDG.
GDGDB (ID)
Link to the Glyco-Disease Genes Database		 104
GGDB (Gene Symbol)
Link to the GlycoGene Database		 FCMD