Medical Knowledge Cockpit muscular dystrophy-dystroglycanopathy (limb-girdle)

• Viral myocarditis
  Homo sapiens (human) one gene

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POMT1

• POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in alpha-DG

GMPPB

• Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.

POMT2

• Characterization of POMT2, a novel member of the PMT protein O-mannosyltransferase family specifically localized to the acrosome of mammalian spermatids

POMGNT1

• Cloning and expression of a novel UDP-GlcNAc:alpha-D-mannoside beta1,2-N-acetylglucosaminyltransferase homologous to UDP-GlcNAc:alpha-3-D-mannoside beta1,2-N-acetylglucosaminyltransferase I

FKTN

• Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy

DAG1

• Caveolin-3 directly interacts with the C-terminal tail of beta -dystroglycan. Identification of a central WW-like domain within caveolin family members
• Deficiency of the 50K dystrophin-associated glycoprotein in severe childhood autosomal recessive muscular dystrophy
• Rapsyn may function as a link between the acetylcholine receptor and the agrin-binding dystrophin-associated glycoprotein complex